Canonical Allele Identifier: CA4292859

Gene: ELN

Linked Data

• ClinVar Variation Id: 514018
• ClinVar RCV Id: RCV000601297 ; RCV001579786 ; RCV001855234
• dbSNP Id: rs199621188
• ExAC: 7:73469098 C / T
• gnomAD v2: 7-73469098-C-T
• gnomAD v3: 7-74054768-C-T
• gnomAD v4: 7-74054768-C-T
• MyVariant Identifiers: chr7:g.73469098C>T (hg19) ; chr7:g.74054768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74054768C>T , CM000669.2:g.74054768C>T	GRCh38
NC_000007.13:g.73469098C>T , CM000669.1:g.73469098C>T	GRCh37
NC_000007.12:g.73107034C>T	NCBI36
NG_009261.1:g.31672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.1149C>T	ENSP00000510104.1:p.Tyr383=
ENST00000252034.12:c.1149C>T MANE Select	ENSP00000252034.7:p.Tyr383=
ENST00000252034.11:c.1149C>T	ENSP00000252034.7:p.Tyr383=
ENST00000320399.10:c.1149C>T	ENSP00000313565.6:p.Tyr383=
ENST00000320492.11:c.1041C>T	ENSP00000315607.7:p.Tyr347=
ENST00000357036.9:c.1164C>T	ENSP00000349540.5:p.Tyr388=
ENST00000358929.8:c.1149C>T	ENSP00000351807.5:p.Tyr383=
ENST00000380553.8:c.798C>T	ENSP00000369926.4:p.Tyr266=
ENST00000380562.8:c.1149C>T	ENSP00000369936.4:p.Tyr383=
ENST00000380575.8:c.1119C>T	ENSP00000369949.4:p.Tyr373=
ENST00000380576.9:c.1149C>T	ENSP00000369950.5:p.Tyr383=
ENST00000380584.8:c.1107C>T	ENSP00000369958.4:p.Tyr369=
ENST00000414324.5:c.1134C>T	ENSP00000392575.1:p.Tyr378=
ENST00000429192.5:c.1164C>T	ENSP00000391129.1:p.Tyr388=
ENST00000445912.5:c.1149C>T	ENSP00000389857.1:p.Tyr383=
ENST00000458204.5:c.1119C>T	ENSP00000403162.1:p.Tyr373=
ENST00000466878.5:n.468C>T
ENST00000492210.1:n.512C>T
ENST00000621115.4:c.1017C>T	ENSP00000480955.1:p.Tyr339=
NM_000501.3:c.1149C>T	NP_000492.2:p.Tyr383=
NM_001081752.2:c.1119C>T	NP_001075221.1:p.Tyr373=
NM_001081753.2:c.1164C>T	NP_001075222.1:p.Tyr388=
NM_001081754.2:c.1164C>T	NP_001075223.1:p.Tyr388=
NM_001081755.2:c.1149C>T	NP_001075224.1:p.Tyr383=
NM_001278912.1:c.1149C>T	NP_001265841.1:p.Tyr383=
NM_001278913.1:c.1041C>T	NP_001265842.1:p.Tyr347=
NM_001278914.1:c.1134C>T	NP_001265843.1:p.Tyr378=
NM_001278915.1:c.1149C>T	NP_001265844.1:p.Tyr383=
NM_001278916.1:c.1107C>T	NP_001265845.1:p.Tyr369=
NM_001278917.1:c.1119C>T	NP_001265846.1:p.Tyr373=
NM_001278918.1:c.1017C>T	NP_001265847.1:p.Tyr339=
NM_001278939.1:c.1149C>T	NP_001265868.1:p.Tyr383=
XM_005250187.1:c.1113C>T	XP_005250244.1:p.Tyr371=
XM_005250188.1:c.1107C>T	XP_005250245.1:p.Tyr369=
XM_011515868.1:c.1164C>T	XP_011514170.1:p.Tyr388=
XM_011515869.1:c.1134C>T	XP_011514171.1:p.Tyr378=
XM_011515870.1:c.1128C>T	XP_011514172.1:p.Tyr376=
XM_011515871.1:c.1122C>T	XP_011514173.1:p.Tyr374=
XM_011515872.1:c.1111+1459C>T	XP_011514174.1:n.1111+1459C>T
XM_011515873.1:c.1164C>T	XP_011514175.1:p.Tyr388=
XM_011515874.1:c.1098C>T	XP_011514176.1:p.Tyr366=
XM_011515875.1:c.1083C>T	XP_011514177.1:p.Tyr361=
XM_011515876.1:c.1164C>T	XP_011514178.1:p.Tyr388=
XM_011515877.1:c.1111+1459C>T	XP_011514179.1:n.1111+1459C>T
XM_005250187.2:c.1113C>T	XP_005250244.1:p.Tyr371=
XM_005250188.2:c.1107C>T	XP_005250245.1:p.Tyr369=
XM_011515868.2:c.1164C>T	XP_011514170.1:p.Tyr388=
XM_011515871.2:c.1122C>T	XP_011514173.1:p.Tyr374=
XM_011515872.2:c.1111+1459C>T	XP_011514174.1:n.1111+1459C>T
XM_011515873.2:c.1164C>T	XP_011514175.1:p.Tyr388=
XM_011515875.2:c.1083C>T	XP_011514177.1:p.Tyr361=
XM_011515876.2:c.1164C>T	XP_011514178.1:p.Tyr388=
XM_011515877.2:c.1111+1459C>T	XP_011514179.1:n.1111+1459C>T
XM_017011813.1:c.1077C>T	XP_016867302.1:p.Tyr359=
XM_017011814.2:c.1122C>T	XP_016867303.1:p.Tyr374=
NM_000501.4:c.1149C>T MANE Select	NP_000492.2:p.Tyr383=
NM_001081752.3:c.1119C>T	NP_001075221.1:p.Tyr373=
NM_001081753.3:c.1164C>T	NP_001075222.1:p.Tyr388=
NM_001081754.3:c.1164C>T	NP_001075223.1:p.Tyr388=
NM_001081755.3:c.1149C>T	NP_001075224.1:p.Tyr383=
NM_001278912.2:c.1149C>T	NP_001265841.1:p.Tyr383=
NM_001278913.2:c.1041C>T	NP_001265842.1:p.Tyr347=
NM_001278914.2:c.1134C>T	NP_001265843.1:p.Tyr378=
NM_001278915.2:c.1149C>T	NP_001265844.1:p.Tyr383=
NM_001278916.2:c.1107C>T	NP_001265845.1:p.Tyr369=
NM_001278917.2:c.1119C>T	NP_001265846.1:p.Tyr373=
NM_001278918.2:c.1017C>T	NP_001265847.1:p.Tyr339=
NM_001278939.2:c.1149C>T	NP_001265868.1:p.Tyr383=