Canonical Allele Identifier: CA522613143

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1378889187
• gnomAD v2: 1-47398281-G-A
• gnomAD v3: 1-46932609-G-A
• gnomAD v4: 1-46932609-G-A
• MyVariant Identifiers: chr1:g.47398281G>A (hg19) ; chr1:g.46932609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932609G>A , CM000663.2:g.46932609G>A	GRCh38
NC_000001.10:g.47398281G>A , CM000663.1:g.47398281G>A	GRCh37
NC_000001.9:g.47170868G>A	NCBI36
NG_007932.1:g.13876C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1364+152C>T MANE Select	ENSP00000311095.4:n.1364+152C>T
ENST00000310638.8:c.1364+152C>T	ENSP00000311095.4:n.1364+152C>T
ENST00000371904.8:c.1367+152C>T	ENSP00000360971.4:n.1367+152C>T
ENST00000371905.1:c.*148C>T	ENSP00000360972.1:n.*148C>T
ENST00000462347.5:c.1070+152C>T	ENSP00000477495.1:n.1070+152C>T
ENST00000465874.5:c.*314C>T	ENSP00000476368.1:n.*314C>T
ENST00000468629.5:c.*69+152C>T	ENSP00000476619.1:n.*69+152C>T
ENST00000474458.5:c.*69+152C>T	ENSP00000476988.1:n.*69+152C>T
ENST00000475477.5:c.*158+152C>T	ENSP00000476854.1:n.*158+152C>T
NM_000778.3:c.1364+152C>T	NP_000769.2:n.1364+152C>T
XM_011540826.1:c.1382+152C>T	XP_011539128.1:n.1382+152C>T
XM_011540827.1:c.1088+152C>T	XP_011539129.1:n.1088+152C>T
XM_011540828.1:c.1070+152C>T	XP_011539130.1:n.1070+152C>T
XR_246241.1:n.1268+152C>T
XR_246242.1:n.1252+152C>T
NM_001319155.1:c.1268+152C>T	NP_001306084.1:n.1268+152C>T
NM_001363587.1:c.1070+152C>T	NP_001350516.1:n.1070+152C>T
NR_134988.1:n.1069+152C>T
NR_134989.1:n.1260+152C>T
NR_134990.1:n.1254+152C>T
NR_134991.1:n.1241+152C>T
NR_134992.1:n.870+152C>T
NR_134993.1:n.1004+152C>T
NR_134994.1:n.1276+152C>T
XM_017000465.1:c.1052+152C>T	XP_016855954.1:n.1052+152C>T
XR_001737005.1:n.1342+152C>T
NM_000778.4:c.1364+152C>T MANE Select	NP_000769.2:n.1364+152C>T
NM_001319155.2:c.1268+152C>T	NP_001306084.1:n.1268+152C>T
NM_001363587.2:c.1070+152C>T	NP_001350516.1:n.1070+152C>T
NR_134988.2:n.1061+152C>T
NR_134989.2:n.1252+152C>T
NR_134990.2:n.1246+152C>T
NR_134991.2:n.1233+152C>T
NR_134992.2:n.862+152C>T
NR_134993.2:n.996+152C>T
NR_134994.2:n.1268+152C>T