Canonical Allele Identifier: CA839313

Gene: CYP4A11

Linked Data

• dbSNP Id: rs150667037
• ExAC: 1:47398659 G / A
• gnomAD v2: 1-47398659-G-A
• gnomAD v3: 1-46932987-G-A
• gnomAD v4: 1-46932987-G-A
• MyVariant Identifiers: chr1:g.47398659G>A (hg19) ; chr1:g.46932987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932987G>A , CM000663.2:g.46932987G>A	GRCh38
NC_000001.10:g.47398659G>A , CM000663.1:g.47398659G>A	GRCh37
NC_000001.9:g.47171246G>A	NCBI36
NG_007932.1:g.13498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1283C>T MANE Select	ENSP00000311095.4:p.Pro428Leu
ENST00000310638.8:c.1283C>T	ENSP00000311095.4:p.Pro428Leu
ENST00000371904.8:c.1286C>T	ENSP00000360971.4:p.Pro429Leu
ENST00000371905.1:c.1283C>T	ENSP00000360972.1:p.Pro428Leu
ENST00000462347.5:c.989C>T	ENSP00000477495.1:p.Pro330Leu
ENST00000465874.5:c.*81C>T	ENSP00000476368.1:n.*81C>T
ENST00000468629.5:c.1127-150C>T	ENSP00000476619.1:n.1127-150C>T
ENST00000474458.5:c.743-150C>T	ENSP00000476988.1:n.743-150C>T
ENST00000475477.5:c.*82-150C>T	ENSP00000476854.1:n.*82-150C>T
NM_000778.3:c.1283C>T	NP_000769.2:p.Pro428Leu
XM_005270539.1:c.989C>T	XP_005270596.1:p.Pro330Leu
XM_011540826.1:c.1301C>T	XP_011539128.1:p.Pro434Leu
XM_011540827.1:c.1007C>T	XP_011539129.1:p.Pro336Leu
XM_011540828.1:c.989C>T	XP_011539130.1:p.Pro330Leu
XR_246241.1:n.1187C>T
XR_246242.1:n.1171C>T
NM_001319155.1:c.1187C>T	NP_001306084.1:p.Pro396Leu
NM_001363587.1:c.989C>T	NP_001350516.1:p.Pro330Leu
NR_134988.1:n.988C>T
NR_134989.1:n.1179C>T
NR_134990.1:n.1178-150C>T
NR_134991.1:n.1160C>T
NR_134992.1:n.794-150C>T
NR_134993.1:n.928-150C>T
NR_134994.1:n.1195C>T
XM_017000465.1:c.971C>T	XP_016855954.1:p.Pro324Leu
XR_001737005.1:n.1266-150C>T
NM_000778.4:c.1283C>T MANE Select	NP_000769.2:p.Pro428Leu
NM_001319155.2:c.1187C>T	NP_001306084.1:p.Pro396Leu
NM_001363587.2:c.989C>T	NP_001350516.1:p.Pro330Leu
NR_134988.2:n.980C>T
NR_134989.2:n.1171C>T
NR_134990.2:n.1170-150C>T
NR_134991.2:n.1152C>T
NR_134992.2:n.786-150C>T
NR_134993.2:n.920-150C>T
NR_134994.2:n.1187C>T