Canonical Allele Identifier: CA358950163

Gene: CYP4V2

Linked Data

• gnomAD v4: 4-186208916-T-C
• MyVariant Identifiers: chr4:g.187130070T>C (hg19) ; chr4:g.186208916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208916T>C , CM000666.2:g.186208916T>C	GRCh38
NC_000004.11:g.187130070T>C , CM000666.1:g.187130070T>C	GRCh37
NC_000004.10:g.187367064T>C	NCBI36
NG_007965.1:g.22397T>C
NG_012095.2:g.4938T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1142T>C MANE Select	ENSP00000368079.4:p.Leu381Pro
ENST00000378802.4:c.1142T>C	ENSP00000368079.4:p.Leu381Pro
ENST00000502665.1:n.377T>C
ENST00000507209.5:n.5840T>C
ENST00000513354.5:n.232T>C
NM_207352.3:c.1142T>C	NP_997235.3:p.Leu381Pro
XM_005262935.2:c.1142T>C	XP_005262992.1:p.Leu381Pro
XM_006714184.2:c.746T>C	XP_006714247.1:p.Leu249Pro
XM_005262935.4:c.1142T>C	XP_005262992.1:p.Leu381Pro
XM_017008037.1:c.746T>C	XP_016863526.1:p.Leu249Pro
NM_207352.4:c.1142T>C MANE Select	NP_997235.3:p.Leu381Pro