Canonical Allele Identifier: CA10617499

Gene: CYP4V2

Linked Data

• ClinVar Variation Id: 348294
• ClinVar RCV Id: RCV000271857 ; RCV000384414
• dbSNP Id: rs531909464
• gnomAD v2: 4-187112850-A-G
• gnomAD v3: 4-186191696-A-G
• gnomAD v4: 4-186191696-A-G
• MyVariant Identifiers: chr4:g.187112850A>G (hg19) ; chr4:g.186191696A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186191696A>G , CM000666.2:g.186191696A>G	GRCh38
NC_000004.11:g.187112850A>G , CM000666.1:g.187112850A>G	GRCh37
NC_000004.10:g.187349844A>G	NCBI36
NG_007965.1:g.5177A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.-128A>G MANE Select	ENSP00000368079.4:n.-128A>G
ENST00000378802.4:c.-128A>G	ENSP00000368079.4:n.-128A>G
NM_207352.3:c.-128A>G	NP_997235.3:n.-128A>G
XM_005262935.2:c.-128A>G	XP_005262992.1:n.-128A>G
XM_017008037.1:c.-438A>G	XP_016863526.1:n.-438A>G
NM_207352.4:c.-128A>G MANE Select	NP_997235.3:n.-128A>G