Canonical Allele Identifier: CA839276

Gene: CYP4A11

Linked Data

• dbSNP Id: rs759789388
• ExAC: 1:47398470 G / C
• gnomAD v2: 1-47398470-G-C
• gnomAD v4: 1-46932798-G-C
• MyVariant Identifiers: chr1:g.47398470G>C (hg19) ; chr1:g.46932798G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932798G>C , CM000663.2:g.46932798G>C	GRCh38
NC_000001.10:g.47398470G>C , CM000663.1:g.47398470G>C	GRCh37
NC_000001.9:g.47171057G>C	NCBI36
NG_007932.1:g.13687C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1327C>G MANE Select	ENSP00000311095.4:p.His443Asp
ENST00000310638.8:c.1327C>G	ENSP00000311095.4:p.His443Asp
ENST00000371904.8:c.1330C>G	ENSP00000360971.4:p.His444Asp
ENST00000371905.1:c.1327C>G	ENSP00000360972.1:p.His443Asp
ENST00000462347.5:c.1033C>G	ENSP00000477495.1:p.His345Asp
ENST00000465874.5:c.*125C>G	ENSP00000476368.1:n.*125C>G
ENST00000468629.5:c.*32C>G	ENSP00000476619.1:n.*32C>G
ENST00000474458.5:c.*32C>G	ENSP00000476988.1:n.*32C>G
ENST00000475477.5:c.*121C>G	ENSP00000476854.1:n.*121C>G
NM_000778.3:c.1327C>G	NP_000769.2:p.His443Asp
XM_005270539.1:c.1033C>G	XP_005270596.1:p.His345Asp
XM_011540826.1:c.1345C>G	XP_011539128.1:p.His449Asp
XM_011540827.1:c.1051C>G	XP_011539129.1:p.His351Asp
XM_011540828.1:c.1033C>G	XP_011539130.1:p.His345Asp
XR_246241.1:n.1231C>G
XR_246242.1:n.1215C>G
NM_001319155.1:c.1231C>G	NP_001306084.1:p.His411Asp
NM_001363587.1:c.1033C>G	NP_001350516.1:p.His345Asp
NR_134988.1:n.1032C>G
NR_134989.1:n.1223C>G
NR_134990.1:n.1217C>G
NR_134991.1:n.1204C>G
NR_134992.1:n.833C>G
NR_134993.1:n.967C>G
NR_134994.1:n.1239C>G
XM_017000465.1:c.1015C>G	XP_016855954.1:p.His339Asp
XR_001737005.1:n.1305C>G
NM_000778.4:c.1327C>G MANE Select	NP_000769.2:p.His443Asp
NM_001319155.2:c.1231C>G	NP_001306084.1:p.His411Asp
NM_001363587.2:c.1033C>G	NP_001350516.1:p.His345Asp
NR_134988.2:n.1024C>G
NR_134989.2:n.1215C>G
NR_134990.2:n.1209C>G
NR_134991.2:n.1196C>G
NR_134992.2:n.825C>G
NR_134993.2:n.959C>G
NR_134994.2:n.1231C>G