Canonical Allele Identifier: CA358947259

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1328551235
• gnomAD v2: 4-187118104-A-C
• gnomAD v4: 4-186196950-A-C
• MyVariant Identifiers: chr4:g.187118104A>C (hg19) ; chr4:g.186196950A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186196950A>C , CM000666.2:g.186196950A>C	GRCh38
NC_000004.11:g.187118104A>C , CM000666.1:g.187118104A>C	GRCh37
NC_000004.10:g.187355098A>C	NCBI36
NG_007965.1:g.10431A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.424A>C MANE Select	ENSP00000368079.4:p.Lys142Gln
ENST00000378802.4:c.424A>C	ENSP00000368079.4:p.Lys142Gln
ENST00000507209.5:n.863A>C
NM_207352.3:c.424A>C	NP_997235.3:p.Lys142Gln
XM_005262935.2:c.424A>C	XP_005262992.1:p.Lys142Gln
XM_006714184.2:c.28A>C	XP_006714247.1:p.Lys10Gln
XM_005262935.4:c.424A>C	XP_005262992.1:p.Lys142Gln
XM_017008037.1:c.28A>C	XP_016863526.1:p.Lys10Gln
NM_207352.4:c.424A>C MANE Select	NP_997235.3:p.Lys142Gln