Canonical Allele Identifier: CA839257

Gene: CYP4A11

Linked Data

• dbSNP Id: rs766468056
• ExAC: 1:47398385 G / C
• gnomAD v2: 1-47398385-G-C
• gnomAD v4: 1-46932713-G-C
• MyVariant Identifiers: chr1:g.47398385G>C (hg19) ; chr1:g.46932713G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932713G>C , CM000663.2:g.46932713G>C	GRCh38
NC_000001.10:g.47398385G>C , CM000663.1:g.47398385G>C	GRCh37
NC_000001.9:g.47170972G>C	NCBI36
NG_007932.1:g.13772C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1364+48C>G MANE Select	ENSP00000311095.4:n.1364+48C>G
ENST00000310638.8:c.1364+48C>G	ENSP00000311095.4:n.1364+48C>G
ENST00000371904.8:c.1367+48C>G	ENSP00000360971.4:n.1367+48C>G
ENST00000371905.1:c.*44C>G	ENSP00000360972.1:n.*44C>G
ENST00000462347.5:c.1070+48C>G	ENSP00000477495.1:n.1070+48C>G
ENST00000465874.5:c.*210C>G	ENSP00000476368.1:n.*210C>G
ENST00000468629.5:c.*69+48C>G	ENSP00000476619.1:n.*69+48C>G
ENST00000474458.5:c.*69+48C>G	ENSP00000476988.1:n.*69+48C>G
ENST00000475477.5:c.*158+48C>G	ENSP00000476854.1:n.*158+48C>G
NM_000778.3:c.1364+48C>G	NP_000769.2:n.1364+48C>G
XM_011540826.1:c.1382+48C>G	XP_011539128.1:n.1382+48C>G
XM_011540827.1:c.1088+48C>G	XP_011539129.1:n.1088+48C>G
XM_011540828.1:c.1070+48C>G	XP_011539130.1:n.1070+48C>G
XR_246241.1:n.1268+48C>G
XR_246242.1:n.1252+48C>G
NM_001319155.1:c.1268+48C>G	NP_001306084.1:n.1268+48C>G
NM_001363587.1:c.1070+48C>G	NP_001350516.1:n.1070+48C>G
NR_134988.1:n.1069+48C>G
NR_134989.1:n.1260+48C>G
NR_134990.1:n.1254+48C>G
NR_134991.1:n.1241+48C>G
NR_134992.1:n.870+48C>G
NR_134993.1:n.1004+48C>G
NR_134994.1:n.1276+48C>G
XM_017000465.1:c.1052+48C>G	XP_016855954.1:n.1052+48C>G
XR_001737005.1:n.1342+48C>G
NM_000778.4:c.1364+48C>G MANE Select	NP_000769.2:n.1364+48C>G
NM_001319155.2:c.1268+48C>G	NP_001306084.1:n.1268+48C>G
NM_001363587.2:c.1070+48C>G	NP_001350516.1:n.1070+48C>G
NR_134988.2:n.1061+48C>G
NR_134989.2:n.1252+48C>G
NR_134990.2:n.1246+48C>G
NR_134991.2:n.1233+48C>G
NR_134992.2:n.862+48C>G
NR_134993.2:n.996+48C>G
NR_134994.2:n.1268+48C>G