Canonical Allele Identifier: CA442639125

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 1538904
• ClinVar RCV Id: RCV002176756
• dbSNP Id: rs2126585104
• gnomAD v4: 4-186197123-C-T
• MyVariant Identifiers: chr4:g.187118277C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186197123C>T , CM000666.2:g.186197123C>T	GRCh38
NC_000004.11:g.187118277C>T , CM000666.1:g.187118277C>T	GRCh37
NC_000004.10:g.187355271C>T	NCBI36
NG_007965.1:g.10604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.597C>T MANE Select	ENSP00000368079.4:p.Ile199=
ENST00000378802.4:c.597C>T	ENSP00000368079.4:p.Ile199=
ENST00000507209.5:n.1036C>T
NM_207352.3:c.597C>T	NP_997235.3:p.Ile199=
XM_005262935.2:c.597C>T	XP_005262992.1:p.Ile199=
XM_006714184.2:c.201C>T	XP_006714247.1:p.Ile67=
XM_005262935.4:c.597C>T	XP_005262992.1:p.Ile199=
XM_017008037.1:c.201C>T	XP_016863526.1:p.Ile67=
NM_207352.4:c.597C>T MANE Select	NP_997235.3:p.Ile199=