Canonical Allele Identifier: CA358946304
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186191824A>C , CM000666.2:g.186191824A>C GRCh38
NC_000004.11:g.187112978A>C , CM000666.1:g.187112978A>C GRCh37
NC_000004.10:g.187349972A>C NCBI36
NG_007965.1:g.5305A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.1A>C MANE Select ENSP00000368079.4:p.Met1Leu
ENST00000378802.4:c.1A>C ENSP00000368079.4:p.Met1Leu
NM_207352.3:c.1A>C NP_997235.3:p.Met1Leu
XM_005262935.2:c.1A>C XP_005262992.1:p.Met1Leu
XM_005262935.4:c.1A>C XP_005262992.1:p.Met1Leu
XM_017008037.1:c.-310A>C XP_016863526.1:n.-310A>C
NM_207352.4:c.1A>C MANE Select NP_997235.3:p.Met1Leu