Canonical Allele Identifier: CA839282

Gene: CYP4A11

Linked Data

• dbSNP Id: rs373468480
• ExAC: 1:47398484 G / A
• gnomAD v2: 1-47398484-G-A
• gnomAD v3: 1-46932812-G-A
• gnomAD v4: 1-46932812-G-A
• MyVariant Identifiers: chr1:g.47398484G>A (hg19) ; chr1:g.46932812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932812G>A , CM000663.2:g.46932812G>A	GRCh38
NC_000001.10:g.47398484G>A , CM000663.1:g.47398484G>A	GRCh37
NC_000001.9:g.47171071G>A	NCBI36
NG_007932.1:g.13673C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1313C>T MANE Select	ENSP00000311095.4:p.Pro438Leu
ENST00000310638.8:c.1313C>T	ENSP00000311095.4:p.Pro438Leu
ENST00000371904.8:c.1316C>T	ENSP00000360971.4:p.Pro439Leu
ENST00000371905.1:c.1313C>T	ENSP00000360972.1:p.Pro438Leu
ENST00000462347.5:c.1019C>T	ENSP00000477495.1:p.Pro340Leu
ENST00000465874.5:c.*111C>T	ENSP00000476368.1:n.*111C>T
ENST00000468629.5:c.*18C>T	ENSP00000476619.1:n.*18C>T
ENST00000474458.5:c.*18C>T	ENSP00000476988.1:n.*18C>T
ENST00000475477.5:c.*107C>T	ENSP00000476854.1:n.*107C>T
NM_000778.3:c.1313C>T	NP_000769.2:p.Pro438Leu
XM_005270539.1:c.1019C>T	XP_005270596.1:p.Pro340Leu
XM_011540826.1:c.1331C>T	XP_011539128.1:p.Pro444Leu
XM_011540827.1:c.1037C>T	XP_011539129.1:p.Pro346Leu
XM_011540828.1:c.1019C>T	XP_011539130.1:p.Pro340Leu
XR_246241.1:n.1217C>T
XR_246242.1:n.1201C>T
NM_001319155.1:c.1217C>T	NP_001306084.1:p.Pro406Leu
NM_001363587.1:c.1019C>T	NP_001350516.1:p.Pro340Leu
NR_134988.1:n.1018C>T
NR_134989.1:n.1209C>T
NR_134990.1:n.1203C>T
NR_134991.1:n.1190C>T
NR_134992.1:n.819C>T
NR_134993.1:n.953C>T
NR_134994.1:n.1225C>T
XM_017000465.1:c.1001C>T	XP_016855954.1:p.Pro334Leu
XR_001737005.1:n.1291C>T
NM_000778.4:c.1313C>T MANE Select	NP_000769.2:p.Pro438Leu
NM_001319155.2:c.1217C>T	NP_001306084.1:p.Pro406Leu
NM_001363587.2:c.1019C>T	NP_001350516.1:p.Pro340Leu
NR_134988.2:n.1010C>T
NR_134989.2:n.1201C>T
NR_134990.2:n.1195C>T
NR_134991.2:n.1182C>T
NR_134992.2:n.811C>T
NR_134993.2:n.945C>T
NR_134994.2:n.1217C>T