Canonical Allele Identifier: CA839273

Gene: CYP4A11

Linked Data

• dbSNP Id: rs544836341
• ExAC: 1:47398452 G / T
• gnomAD v2: 1-47398452-G-T
• gnomAD v3: 1-46932780-G-T
• gnomAD v4: 1-46932780-G-T
• MyVariant Identifiers: chr1:g.47398452G>T (hg19) ; chr1:g.46932780G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932780G>T , CM000663.2:g.46932780G>T	GRCh38
NC_000001.10:g.47398452G>T , CM000663.1:g.47398452G>T	GRCh37
NC_000001.9:g.47171039G>T	NCBI36
NG_007932.1:g.13705C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1345C>A MANE Select	ENSP00000311095.4:p.Pro449Thr
ENST00000310638.8:c.1345C>A	ENSP00000311095.4:p.Pro449Thr
ENST00000371904.8:c.1348C>A	ENSP00000360971.4:p.Pro450Thr
ENST00000371905.1:c.1345C>A	ENSP00000360972.1:p.Pro449Thr
ENST00000462347.5:c.1051C>A	ENSP00000477495.1:p.Pro351Thr
ENST00000465874.5:c.*143C>A	ENSP00000476368.1:n.*143C>A
ENST00000468629.5:c.*50C>A	ENSP00000476619.1:n.*50C>A
ENST00000474458.5:c.*50C>A	ENSP00000476988.1:n.*50C>A
ENST00000475477.5:c.*139C>A	ENSP00000476854.1:n.*139C>A
NM_000778.3:c.1345C>A	NP_000769.2:p.Pro449Thr
XM_005270539.1:c.1051C>A	XP_005270596.1:p.Pro351Thr
XM_011540826.1:c.1363C>A	XP_011539128.1:p.Pro455Thr
XM_011540827.1:c.1069C>A	XP_011539129.1:p.Pro357Thr
XM_011540828.1:c.1051C>A	XP_011539130.1:p.Pro351Thr
XR_246241.1:n.1249C>A
XR_246242.1:n.1233C>A
NM_001319155.1:c.1249C>A	NP_001306084.1:p.Pro417Thr
NM_001363587.1:c.1051C>A	NP_001350516.1:p.Pro351Thr
NR_134988.1:n.1050C>A
NR_134989.1:n.1241C>A
NR_134990.1:n.1235C>A
NR_134991.1:n.1222C>A
NR_134992.1:n.851C>A
NR_134993.1:n.985C>A
NR_134994.1:n.1257C>A
XM_017000465.1:c.1033C>A	XP_016855954.1:p.Pro345Thr
XR_001737005.1:n.1323C>A
NM_000778.4:c.1345C>A MANE Select	NP_000769.2:p.Pro449Thr
NM_001319155.2:c.1249C>A	NP_001306084.1:p.Pro417Thr
NM_001363587.2:c.1051C>A	NP_001350516.1:p.Pro351Thr
NR_134988.2:n.1042C>A
NR_134989.2:n.1233C>A
NR_134990.2:n.1227C>A
NR_134991.2:n.1214C>A
NR_134992.2:n.843C>A
NR_134993.2:n.977C>A
NR_134994.2:n.1249C>A