Canonical Allele Identifier: CA112125832

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1050351035
• gnomAD v2: 4-187119964-T-C
• gnomAD v3: 4-186198810-T-C
• gnomAD v4: 4-186198810-T-C
• MyVariant Identifiers: chr4:g.187119964T>C (hg19) ; chr4:g.186198810T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186198810T>C , CM000666.2:g.186198810T>C	GRCh38
NC_000004.11:g.187119964T>C , CM000666.1:g.187119964T>C	GRCh37
NC_000004.10:g.187356958T>C	NCBI36
NG_007965.1:g.12291T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.675-147T>C MANE Select	ENSP00000368079.4:n.675-147T>C
ENST00000378802.4:c.675-147T>C	ENSP00000368079.4:n.675-147T>C
ENST00000507209.5:n.1516-147T>C
NM_207352.3:c.675-147T>C	NP_997235.3:n.675-147T>C
XM_005262935.2:c.675-147T>C	XP_005262992.1:n.675-147T>C
XM_006714184.2:c.279-147T>C	XP_006714247.1:n.279-147T>C
XM_005262935.4:c.675-147T>C	XP_005262992.1:n.675-147T>C
XM_017008037.1:c.279-147T>C	XP_016863526.1:n.279-147T>C
NM_207352.4:c.675-147T>C MANE Select	NP_997235.3:n.675-147T>C