Canonical Allele Identifier: CA358947301
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186196969A>C , CM000666.2:g.186196969A>C GRCh38
NC_000004.11:g.187118123A>C , CM000666.1:g.187118123A>C GRCh37
NC_000004.10:g.187355117A>C NCBI36
NG_007965.1:g.10450A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378802.5:c.443A>C MANE Select ENSP00000368079.4:p.Lys148Thr
ENST00000378802.4:c.443A>C ENSP00000368079.4:p.Lys148Thr
ENST00000507209.5:n.882A>C
NM_207352.3:c.443A>C NP_997235.3:p.Lys148Thr
XM_005262935.2:c.443A>C XP_005262992.1:p.Lys148Thr
XM_006714184.2:c.47A>C XP_006714247.1:p.Lys16Thr
XM_005262935.4:c.443A>C XP_005262992.1:p.Lys148Thr
XM_017008037.1:c.47A>C XP_016863526.1:p.Lys16Thr
NM_207352.4:c.443A>C MANE Select NP_997235.3:p.Lys148Thr