Canonical Allele Identifier: CA987093153

Gene: ENOSF1

Linked Data

• dbSNP Id: rs2075575290
• gnomAD v3: 18-676922-C-A
• gnomAD v4: 18-676922-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.676922C>A , CM000680.2:g.676922C>A	GRCh38
NC_000018.9:g.676922C>A , CM000680.1:g.676922C>A	GRCh37
NC_000018.8:g.666922C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340116.12:c.1250+423G>T	ENSP00000345974.8:n.1250+423G>T
ENST00000647584.2:c.1148+423G>T MANE Select	ENSP00000497230.2:n.1148+423G>T
ENST00000251101.11:c.1148+423G>T	ENSP00000251101.7:n.1148+423G>T
ENST00000340116.11:c.1169+423G>T	ENSP00000345974.7:n.1169+423G>T
ENST00000383578.7:c.902+423G>T	ENSP00000373072.3:n.902+423G>T
ENST00000580982.5:c.920+423G>T	ENSP00000463425.1:n.920+423G>T
ENST00000581475.5:c.*535+423G>T	ENSP00000464614.1:n.*535+423G>T
ENST00000581928.5:n.136-1520G>T
ENST00000582745.5:n.646+423G>T
ENST00000583973.5:n.1729+423G>T
ENST00000584259.6:n.3259+423G>T
ENST00000584453.5:c.*535+423G>T	ENSP00000463448.1:n.*535+423G>T
ENST00000584646.5:n.264+423G>T
ENST00000585128.6:c.968+423G>T
NM_001126123.3:c.902+423G>T	NP_001119595.1:n.902+423G>T
NM_017512.5:c.1148+423G>T	NP_059982.2:n.1148+423G>T
NM_202758.3:c.1169+423G>T	NP_974487.1:n.1169+423G>T
XM_005258118.2:c.605+423G>T	XP_005258175.1:n.605+423G>T
XM_011525677.1:c.1190+423G>T	XP_011523979.1:n.1190+423G>T
XM_011525678.1:c.1181+423G>T	XP_011523980.1:n.1181+423G>T
XM_011525679.1:c.1175+423G>T	XP_011523981.1:n.1175+423G>T
XM_011525680.1:c.1163+423G>T	XP_011523982.1:n.1163+423G>T
XM_011525681.1:c.1151+423G>T	XP_011523983.1:n.1151+423G>T
XM_011525682.1:c.1124+423G>T	XP_011523984.1:n.1124+423G>T
XM_011525683.1:c.1001+423G>T	XP_011523985.1:n.1001+423G>T
XM_011525684.1:c.974+423G>T	XP_011523986.1:n.974+423G>T
XM_011525685.1:c.962+423G>T	XP_011523987.1:n.962+423G>T
XM_011525686.1:c.938+423G>T	XP_011523988.1:n.938+423G>T
XM_011525687.1:c.920+423G>T	XP_011523989.1:n.920+423G>T
XM_011525688.1:c.917+423G>T	XP_011523990.1:n.917+423G>T
XM_011525689.1:c.785+423G>T	XP_011523991.1:n.785+423G>T
XM_011525690.1:c.785+423G>T	XP_011523992.1:n.785+423G>T
XM_011525691.1:c.731+423G>T	XP_011523993.1:n.731+423G>T
XM_011525692.1:c.731+423G>T	XP_011523994.1:n.731+423G>T
XM_011525693.1:c.731+423G>T	XP_011523995.1:n.731+423G>T
XM_011525694.1:c.716+423G>T	XP_011523996.1:n.716+423G>T
XM_011525695.1:c.692+423G>T	XP_011523997.1:n.692+423G>T
XM_011525696.1:c.620+423G>T	XP_011523998.1:n.620+423G>T
XM_011525697.1:c.578+423G>T	XP_011523999.1:n.578+423G>T
XM_011525698.1:c.578+423G>T	XP_011524000.1:n.578+423G>T
XM_011525699.1:c.578+423G>T	XP_011524001.1:n.578+423G>T
XR_243810.3:n.1184+423G>T
XR_243811.2:n.1209+423G>T
XR_430041.2:n.1304+423G>T
XR_935066.1:n.1069+423G>T
XR_935067.1:n.928-1520G>T
NM_001318760.1:c.605+423G>T	NP_001305689.1:n.605+423G>T
NM_001354065.1:c.902+423G>T	NP_001340994.1:n.902+423G>T
NM_001354066.1:c.1106+423G>T	NP_001340995.1:n.1106+423G>T
NM_001354067.1:c.1292+423G>T	NP_001340996.1:n.1292+423G>T
NM_001354068.1:c.1061+423G>T	NP_001340997.1:n.1061+423G>T
NM_017512.6:c.1148+423G>T	NP_059982.2:n.1148+423G>T
NM_202758.4:c.1250+423G>T	NP_974487.2:n.1250+423G>T
NR_148706.1:n.1109+423G>T
NR_148707.1:n.1225+423G>T
NR_148708.1:n.1473+423G>T
NR_148709.1:n.1159+423G>T
NR_148710.1:n.1185+423G>T
NR_148711.1:n.1036+423G>T
NR_148712.1:n.1369+423G>T
XM_017025837.1:c.563+423G>T	XP_016881326.1:n.563+423G>T
XM_024451200.1:c.1169+423G>T	XP_024306968.1:n.1169+423G>T
XM_024451201.1:c.1163+423G>T	XP_024306969.1:n.1163+423G>T
XM_024451202.1:c.1154+423G>T	XP_024306970.1:n.1154+423G>T
XM_024451203.1:c.1124+423G>T	XP_024306971.1:n.1124+423G>T
XM_024451204.1:c.1004+423G>T	XP_024306972.1:n.1004+423G>T
XM_024451205.1:c.980+423G>T	XP_024306973.1:n.980+423G>T
XM_024451206.1:c.974+423G>T	XP_024306974.1:n.974+423G>T
XM_024451207.1:c.938+423G>T	XP_024306975.1:n.938+423G>T
XM_024451208.1:c.923+423G>T	XP_024306976.1:n.923+423G>T
XM_024451209.1:c.920+423G>T	XP_024306977.1:n.920+423G>T
XM_024451210.1:c.917+423G>T	XP_024306978.1:n.917+423G>T
XM_024451211.1:c.878+423G>T	XP_024306979.1:n.878+423G>T
XM_024451212.1:c.785+423G>T	XP_024306980.1:n.785+423G>T
XM_024451213.1:c.785+423G>T	XP_024306981.1:n.785+423G>T
XM_024451214.1:c.746+423G>T	XP_024306982.1:n.746+423G>T
XM_024451215.1:c.731+423G>T	XP_024306983.1:n.731+423G>T
XM_024451216.1:c.731+423G>T	XP_024306984.1:n.731+423G>T
XM_024451217.1:c.620+423G>T	XP_024306985.1:n.620+423G>T
XM_024451218.1:c.578+423G>T	XP_024306986.1:n.578+423G>T
XM_024451219.1:c.578+423G>T	XP_024306987.1:n.578+423G>T
XM_024451220.1:c.578+423G>T	XP_024306988.1:n.578+423G>T
XR_002958180.1:n.938-1520G>T
XR_430041.4:n.1323+423G>T
NM_017512.7:c.1148+423G>T MANE Select	NP_059982.2:n.1148+423G>T
NM_001318760.2:c.605+423G>T	NP_001305689.1:n.605+423G>T
NM_001354065.2:c.902+423G>T	NP_001340994.1:n.902+423G>T
NM_001354066.2:c.1106+423G>T	NP_001340995.1:n.1106+423G>T
NM_001354067.2:c.1292+423G>T	NP_001340996.1:n.1292+423G>T
NM_001354068.2:c.1061+423G>T	NP_001340997.1:n.1061+423G>T
NM_202758.5:c.1250+423G>T	NP_974487.2:n.1250+423G>T
NR_148706.2:n.1075+423G>T
NR_148707.2:n.1191+423G>T
NR_148708.2:n.1439+423G>T
NR_148709.2:n.1125+423G>T
NR_148710.2:n.1151+423G>T
NR_148711.2:n.1002+423G>T
NR_148712.2:n.1335+423G>T