Canonical Allele Identifier: CA839275

Gene: CYP4A11

Linked Data

• dbSNP Id: rs753983297
• ExAC: 1:47398462 G / A
• gnomAD v2: 1-47398462-G-A
• gnomAD v4: 1-46932790-G-A
• MyVariant Identifiers: chr1:g.47398462G>A (hg19) ; chr1:g.46932790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932790G>A , CM000663.2:g.46932790G>A	GRCh38
NC_000001.10:g.47398462G>A , CM000663.1:g.47398462G>A	GRCh37
NC_000001.9:g.47171049G>A	NCBI36
NG_007932.1:g.13695C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1335C>T MANE Select	ENSP00000311095.4:p.His445=
ENST00000310638.8:c.1335C>T	ENSP00000311095.4:p.His445=
ENST00000371904.8:c.1338C>T	ENSP00000360971.4:p.His446=
ENST00000371905.1:c.1335C>T	ENSP00000360972.1:p.His445=
ENST00000462347.5:c.1041C>T	ENSP00000477495.1:p.His347=
ENST00000465874.5:c.*133C>T	ENSP00000476368.1:n.*133C>T
ENST00000468629.5:c.*40C>T	ENSP00000476619.1:n.*40C>T
ENST00000474458.5:c.*40C>T	ENSP00000476988.1:n.*40C>T
ENST00000475477.5:c.*129C>T	ENSP00000476854.1:n.*129C>T
NM_000778.3:c.1335C>T	NP_000769.2:p.His445=
XM_005270539.1:c.1041C>T	XP_005270596.1:p.His347=
XM_011540826.1:c.1353C>T	XP_011539128.1:p.His451=
XM_011540827.1:c.1059C>T	XP_011539129.1:p.His353=
XM_011540828.1:c.1041C>T	XP_011539130.1:p.His347=
XR_246241.1:n.1239C>T
XR_246242.1:n.1223C>T
NM_001319155.1:c.1239C>T	NP_001306084.1:p.His413=
NM_001363587.1:c.1041C>T	NP_001350516.1:p.His347=
NR_134988.1:n.1040C>T
NR_134989.1:n.1231C>T
NR_134990.1:n.1225C>T
NR_134991.1:n.1212C>T
NR_134992.1:n.841C>T
NR_134993.1:n.975C>T
NR_134994.1:n.1247C>T
XM_017000465.1:c.1023C>T	XP_016855954.1:p.His341=
XR_001737005.1:n.1313C>T
NM_000778.4:c.1335C>T MANE Select	NP_000769.2:p.His445=
NM_001319155.2:c.1239C>T	NP_001306084.1:p.His413=
NM_001363587.2:c.1041C>T	NP_001350516.1:p.His347=
NR_134988.2:n.1032C>T
NR_134989.2:n.1223C>T
NR_134990.2:n.1217C>T
NR_134991.2:n.1204C>T
NR_134992.2:n.833C>T
NR_134993.2:n.967C>T
NR_134994.2:n.1239C>T