Canonical Allele Identifier: CA343733
Gene: CYP4V2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 39266
ClinVar RCV Id: RCV000032543
dbSNP Id: rs199476190

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186197044T>G , CM000666.2:g.186197044T>G GRCh38
NC_000004.10:g.187355192T>G NCBI36
NC_000004.11:g.187118198T>G , CM000666.1:g.187118198T>G GRCh37
NG_007965.1:g.10525T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.4:c.518T>G ENSP00000368079.4:p.Leu173Trp
ENST00000507209.5:n.957T>G
NM_207352.3:c.518T>G NP_997235.3:p.Leu173Trp
XM_005262935.2:c.518T>G XP_005262992.1:p.Leu173Trp
XM_006714184.2:c.122T>G XP_006714247.1:p.Leu41Trp