Canonical Allele Identifier: CA1519889228
Gene: CYP4V2 HGNC NCBI

Linked Data

dbSNP Id: rs1579972859

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186205397C>T , CM000666.2:g.186205397C>T GRCh38
NC_000004.11:g.187126551C>T , CM000666.1:g.187126551C>T GRCh37
NC_000004.10:g.187363545C>T NCBI36
NG_007965.1:g.18878C>T
NG_012095.2:g.1419C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1090+95C>T MANE Select ENSP00000368079.4:n.1090+95C>T
ENST00000378802.4:c.1090+95C>T ENSP00000368079.4:n.1090+95C>T
ENST00000502665.1:n.325+95C>T
ENST00000507209.5:n.5788+95C>T
ENST00000513354.5:n.180+95C>T
NM_207352.3:c.1090+95C>T NP_997235.3:n.1090+95C>T
XM_005262935.2:c.1090+95C>T XP_005262992.1:n.1090+95C>T
XM_006714184.2:c.694+95C>T XP_006714247.1:n.694+95C>T
XM_005262935.4:c.1090+95C>T XP_005262992.1:n.1090+95C>T
XM_017008037.1:c.694+95C>T XP_016863526.1:n.694+95C>T
NM_207352.4:c.1090+95C>T MANE Select NP_997235.3:n.1090+95C>T