Canonical Allele Identifier: CA112131593

Gene: CYP4V2

Linked Data

• dbSNP Id: rs761199086
• gnomAD v4: 4-186205217-A-T
• MyVariant Identifiers: chr4:g.187126371A>T (hg19) ; chr4:g.186205217A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205217A>T , CM000666.2:g.186205217A>T	GRCh38
NC_000004.11:g.187126371A>T , CM000666.1:g.187126371A>T	GRCh37
NC_000004.10:g.187363365A>T	NCBI36
NG_007965.1:g.18698A>T
NG_012095.2:g.1239A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1005A>T MANE Select	ENSP00000368079.4:p.Ala335=
ENST00000378802.4:c.1005A>T	ENSP00000368079.4:p.Ala335=
ENST00000502665.1:n.240A>T
ENST00000507209.5:n.5703A>T
ENST00000513354.5:n.95A>T
NM_207352.3:c.1005A>T	NP_997235.3:p.Ala335=
XM_005262935.2:c.1005A>T	XP_005262992.1:p.Ala335=
XM_006714184.2:c.609A>T	XP_006714247.1:p.Ala203=
XM_005262935.4:c.1005A>T	XP_005262992.1:p.Ala335=
XM_017008037.1:c.609A>T	XP_016863526.1:p.Ala203=
NM_207352.4:c.1005A>T MANE Select	NP_997235.3:p.Ala335=