Canonical Allele Identifier: CA522613105

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1230181519
• gnomAD v2: 1-47397956-G-C
• gnomAD v3: 1-46932284-G-C
• gnomAD v4: 1-46932284-G-C
• MyVariant Identifiers: chr1:g.47397956G>C (hg19) ; chr1:g.46932284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932284G>C , CM000663.2:g.46932284G>C	GRCh38
NC_000001.10:g.47397956G>C , CM000663.1:g.47397956G>C	GRCh37
NC_000001.9:g.47170543G>C	NCBI36
NG_007932.1:g.14201C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1364+477C>G MANE Select	ENSP00000311095.4:n.1364+477C>G
ENST00000310638.8:c.1364+477C>G	ENSP00000311095.4:n.1364+477C>G
ENST00000371904.8:c.1367+477C>G	ENSP00000360971.4:n.1367+477C>G
ENST00000462347.5:c.1070+477C>G	ENSP00000477495.1:n.1070+477C>G
ENST00000465874.5:c.*639C>G	ENSP00000476368.1:n.*639C>G
ENST00000468629.5:c.*69+477C>G	ENSP00000476619.1:n.*69+477C>G
ENST00000474458.5:c.*69+477C>G	ENSP00000476988.1:n.*69+477C>G
ENST00000475477.5:c.*158+477C>G	ENSP00000476854.1:n.*158+477C>G
NM_000778.3:c.1364+477C>G	NP_000769.2:n.1364+477C>G
XM_011540826.1:c.1382+477C>G	XP_011539128.1:n.1382+477C>G
XM_011540827.1:c.1088+477C>G	XP_011539129.1:n.1088+477C>G
XM_011540828.1:c.1070+477C>G	XP_011539130.1:n.1070+477C>G
XR_246241.1:n.1268+477C>G
XR_246242.1:n.1252+477C>G
NM_001319155.1:c.1268+477C>G	NP_001306084.1:n.1268+477C>G
NM_001363587.1:c.1070+477C>G	NP_001350516.1:n.1070+477C>G
NR_134988.1:n.1069+477C>G
NR_134989.1:n.1260+477C>G
NR_134990.1:n.1254+477C>G
NR_134991.1:n.1241+477C>G
NR_134992.1:n.870+477C>G
NR_134993.1:n.1004+477C>G
NR_134994.1:n.1276+477C>G
XM_017000465.1:c.1052+477C>G	XP_016855954.1:n.1052+477C>G
XR_001737005.1:n.1342+477C>G
NM_000778.4:c.1364+477C>G MANE Select	NP_000769.2:n.1364+477C>G
NM_001319155.2:c.1268+477C>G	NP_001306084.1:n.1268+477C>G
NM_001363587.2:c.1070+477C>G	NP_001350516.1:n.1070+477C>G
NR_134988.2:n.1061+477C>G
NR_134989.2:n.1252+477C>G
NR_134990.2:n.1246+477C>G
NR_134991.2:n.1233+477C>G
NR_134992.2:n.862+477C>G
NR_134993.2:n.996+477C>G
NR_134994.2:n.1268+477C>G