Canonical Allele Identifier: CA839279

Gene: CYP4A11

Linked Data

• dbSNP Id: rs758645775
• ExAC: 1:47398480 A / G
• gnomAD v2: 1-47398480-A-G
• gnomAD v4: 1-46932808-A-G
• MyVariant Identifiers: chr1:g.47398480A>G (hg19) ; chr1:g.46932808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932808A>G , CM000663.2:g.46932808A>G	GRCh38
NC_000001.10:g.47398480A>G , CM000663.1:g.47398480A>G	GRCh37
NC_000001.9:g.47171067A>G	NCBI36
NG_007932.1:g.13677T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1317T>C MANE Select	ENSP00000311095.4:p.Gly439=
ENST00000310638.8:c.1317T>C	ENSP00000311095.4:p.Gly439=
ENST00000371904.8:c.1320T>C	ENSP00000360971.4:p.Gly440=
ENST00000371905.1:c.1317T>C	ENSP00000360972.1:p.Gly439=
ENST00000462347.5:c.1023T>C	ENSP00000477495.1:p.Gly341=
ENST00000465874.5:c.*115T>C	ENSP00000476368.1:n.*115T>C
ENST00000468629.5:c.*22T>C	ENSP00000476619.1:n.*22T>C
ENST00000474458.5:c.*22T>C	ENSP00000476988.1:n.*22T>C
ENST00000475477.5:c.*111T>C	ENSP00000476854.1:n.*111T>C
NM_000778.3:c.1317T>C	NP_000769.2:p.Gly439=
XM_005270539.1:c.1023T>C	XP_005270596.1:p.Gly341=
XM_011540826.1:c.1335T>C	XP_011539128.1:p.Gly445=
XM_011540827.1:c.1041T>C	XP_011539129.1:p.Gly347=
XM_011540828.1:c.1023T>C	XP_011539130.1:p.Gly341=
XR_246241.1:n.1221T>C
XR_246242.1:n.1205T>C
NM_001319155.1:c.1221T>C	NP_001306084.1:p.Gly407=
NM_001363587.1:c.1023T>C	NP_001350516.1:p.Gly341=
NR_134988.1:n.1022T>C
NR_134989.1:n.1213T>C
NR_134990.1:n.1207T>C
NR_134991.1:n.1194T>C
NR_134992.1:n.823T>C
NR_134993.1:n.957T>C
NR_134994.1:n.1229T>C
XM_017000465.1:c.1005T>C	XP_016855954.1:p.Gly335=
XR_001737005.1:n.1295T>C
NM_000778.4:c.1317T>C MANE Select	NP_000769.2:p.Gly439=
NM_001319155.2:c.1221T>C	NP_001306084.1:p.Gly407=
NM_001363587.2:c.1023T>C	NP_001350516.1:p.Gly341=
NR_134988.2:n.1014T>C
NR_134989.2:n.1205T>C
NR_134990.2:n.1199T>C
NR_134991.2:n.1186T>C
NR_134992.2:n.815T>C
NR_134993.2:n.949T>C
NR_134994.2:n.1221T>C