Canonical Allele Identifier: CA3162783

Gene: CYP4V2

Linked Data

• dbSNP Id: rs199476203
• ExAC: 4:187130127 G / T
• gnomAD v2: 4-187130127-G-T
• gnomAD v4: 4-186208973-G-T
• MyVariant Identifiers: chr4:g.187130127G>T (hg19) ; chr4:g.186208973G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208973G>T , CM000666.2:g.186208973G>T	GRCh38
NC_000004.11:g.187130127G>T , CM000666.1:g.187130127G>T	GRCh37
NC_000004.10:g.187367121G>T	NCBI36
NG_007965.1:g.22454G>T
NG_012095.2:g.4995G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1199G>T MANE Select	ENSP00000368079.4:p.Arg400Leu
ENST00000378802.4:c.1199G>T	ENSP00000368079.4:p.Arg400Leu
ENST00000502665.1:n.434G>T
ENST00000507209.5:n.5897G>T
ENST00000513354.5:n.289G>T
NM_207352.3:c.1199G>T	NP_997235.3:p.Arg400Leu
XM_005262935.2:c.1199G>T	XP_005262992.1:p.Arg400Leu
XM_006714184.2:c.803G>T	XP_006714247.1:p.Arg268Leu
XM_005262935.4:c.1199G>T	XP_005262992.1:p.Arg400Leu
XM_017008037.1:c.803G>T	XP_016863526.1:p.Arg268Leu
NM_207352.4:c.1199G>T MANE Select	NP_997235.3:p.Arg400Leu