Canonical Allele Identifier: CA839268

Gene: CYP4A11

Linked Data

• dbSNP Id: rs768252910
• ExAC: 1:47398425 C / G
• gnomAD v2: 1-47398425-C-G
• gnomAD v3: 1-46932753-C-G
• gnomAD v4: 1-46932753-C-G
• MyVariant Identifiers: chr1:g.47398425C>G (hg19) ; chr1:g.46932753C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932753C>G , CM000663.2:g.46932753C>G	GRCh38
NC_000001.10:g.47398425C>G , CM000663.1:g.47398425C>G	GRCh37
NC_000001.9:g.47171012C>G	NCBI36
NG_007932.1:g.13732G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1364+8G>C MANE Select	ENSP00000311095.4:n.1364+8G>C
ENST00000310638.8:c.1364+8G>C	ENSP00000311095.4:n.1364+8G>C
ENST00000371904.8:c.1367+8G>C	ENSP00000360971.4:n.1367+8G>C
ENST00000371905.1:c.*4G>C	ENSP00000360972.1:n.*4G>C
ENST00000462347.5:c.1070+8G>C	ENSP00000477495.1:n.1070+8G>C
ENST00000465874.5:c.*170G>C	ENSP00000476368.1:n.*170G>C
ENST00000468629.5:c.*69+8G>C	ENSP00000476619.1:n.*69+8G>C
ENST00000474458.5:c.*69+8G>C	ENSP00000476988.1:n.*69+8G>C
ENST00000475477.5:c.*158+8G>C	ENSP00000476854.1:n.*158+8G>C
NM_000778.3:c.1364+8G>C	NP_000769.2:n.1364+8G>C
XM_011540826.1:c.1382+8G>C	XP_011539128.1:n.1382+8G>C
XM_011540827.1:c.1088+8G>C	XP_011539129.1:n.1088+8G>C
XM_011540828.1:c.1070+8G>C	XP_011539130.1:n.1070+8G>C
XR_246241.1:n.1268+8G>C
XR_246242.1:n.1252+8G>C
NM_001319155.1:c.1268+8G>C	NP_001306084.1:n.1268+8G>C
NM_001363587.1:c.1070+8G>C	NP_001350516.1:n.1070+8G>C
NR_134988.1:n.1069+8G>C
NR_134989.1:n.1260+8G>C
NR_134990.1:n.1254+8G>C
NR_134991.1:n.1241+8G>C
NR_134992.1:n.870+8G>C
NR_134993.1:n.1004+8G>C
NR_134994.1:n.1276+8G>C
XM_017000465.1:c.1052+8G>C	XP_016855954.1:n.1052+8G>C
XR_001737005.1:n.1342+8G>C
NM_000778.4:c.1364+8G>C MANE Select	NP_000769.2:n.1364+8G>C
NM_001319155.2:c.1268+8G>C	NP_001306084.1:n.1268+8G>C
NM_001363587.2:c.1070+8G>C	NP_001350516.1:n.1070+8G>C
NR_134988.2:n.1061+8G>C
NR_134989.2:n.1252+8G>C
NR_134990.2:n.1246+8G>C
NR_134991.2:n.1233+8G>C
NR_134992.2:n.862+8G>C
NR_134993.2:n.996+8G>C
NR_134994.2:n.1268+8G>C