Canonical Allele Identifier: CA358949258
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205221G>C , CM000666.2:g.186205221G>C GRCh38
NC_000004.11:g.187126375G>C , CM000666.1:g.187126375G>C GRCh37
NC_000004.10:g.187363369G>C NCBI36
NG_007965.1:g.18702G>C
NG_012095.2:g.1243G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1009G>C MANE Select ENSP00000368079.4:p.Ala337Pro
ENST00000378802.4:c.1009G>C ENSP00000368079.4:p.Ala337Pro
ENST00000502665.1:n.244G>C
ENST00000507209.5:n.5707G>C
ENST00000513354.5:n.99G>C
NM_207352.3:c.1009G>C NP_997235.3:p.Ala337Pro
XM_005262935.2:c.1009G>C XP_005262992.1:p.Ala337Pro
XM_006714184.2:c.613G>C XP_006714247.1:p.Ala205Pro
XM_005262935.4:c.1009G>C XP_005262992.1:p.Ala337Pro
XM_017008037.1:c.613G>C XP_016863526.1:p.Ala205Pro
NM_207352.4:c.1009G>C MANE Select NP_997235.3:p.Ala337Pro