Canonical Allele Identifier: CA358950153

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1736615314
• MyVariant Identifiers: chr4:g.187130066T>C (hg19) ; chr4:g.186208912T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208912T>C , CM000666.2:g.186208912T>C	GRCh38
NC_000004.11:g.187130066T>C , CM000666.1:g.187130066T>C	GRCh37
NC_000004.10:g.187367060T>C	NCBI36
NG_007965.1:g.22393T>C
NG_012095.2:g.4934T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1138T>C MANE Select	ENSP00000368079.4:p.Tyr380His
ENST00000378802.4:c.1138T>C	ENSP00000368079.4:p.Tyr380His
ENST00000502665.1:n.373T>C
ENST00000507209.5:n.5836T>C
ENST00000513354.5:n.228T>C
NM_207352.3:c.1138T>C	NP_997235.3:p.Tyr380His
XM_005262935.2:c.1138T>C	XP_005262992.1:p.Tyr380His
XM_006714184.2:c.742T>C	XP_006714247.1:p.Tyr248His
XM_005262935.4:c.1138T>C	XP_005262992.1:p.Tyr380His
XM_017008037.1:c.742T>C	XP_016863526.1:p.Tyr248His
NM_207352.4:c.1138T>C MANE Select	NP_997235.3:p.Tyr380His