Canonical Allele Identifier: CA112131667

Gene: CYP4V2

Linked Data

• dbSNP Id: rs112087566
• MyVariant Identifiers: chr4:g.187126430T>C (hg19) ; chr4:g.186205276T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186205276T>C , CM000666.2:g.186205276T>C	GRCh38
NC_000004.11:g.187126430T>C , CM000666.1:g.187126430T>C	GRCh37
NC_000004.10:g.187363424T>C	NCBI36
NG_007965.1:g.18757T>C
NG_012095.2:g.1298T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1064T>C MANE Select	ENSP00000368079.4:p.Val355Ala
ENST00000378802.4:c.1064T>C	ENSP00000368079.4:p.Val355Ala
ENST00000502665.1:n.299T>C
ENST00000507209.5:n.5762T>C
ENST00000513354.5:n.154T>C
NM_207352.3:c.1064T>C	NP_997235.3:p.Val355Ala
XM_005262935.2:c.1064T>C	XP_005262992.1:p.Val355Ala
XM_006714184.2:c.668T>C	XP_006714247.1:p.Val223Ala
XM_005262935.4:c.1064T>C	XP_005262992.1:p.Val355Ala
XM_017008037.1:c.668T>C	XP_016863526.1:p.Val223Ala
NM_207352.4:c.1064T>C MANE Select	NP_997235.3:p.Val355Ala