Canonical Allele Identifier: CA359554886

Gene: C9

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.39308356C>A , CM000667.2:g.39308356C>A	GRCh38
NC_000005.9:g.39308458C>A , CM000667.1:g.39308458C>A	GRCh37
NC_000005.8:g.39344215C>A	NCBI36
NG_009894.1:g.61198G>T , LRG_32:g.61198G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001737.5:c.1114G>T MANE Select	NP_001728.1:p.Val372Phe
ENST00000263408.5:c.1114G>T MANE Select	ENSP00000263408.4:p.Val372Phe
NM_001737.3:c.1114G>T , LRG_32t1:c.1114G>T	NP_001728.1:p.Val372Phe
NM_001737.4:c.1114G>T	NP_001728.1:p.Val372Phe
ENST00000263408.4:c.1114G>T	ENSP00000263408.4:p.Val372Phe
ENST00000509186.6:c.1042G>T	ENSP00000512235.1:p.Val348Phe
ENST00000695880.1:c.1112-1564G>T	ENSP00000512236.1:n.1112-1564G>T
ENST00000695881.1:c.1114G>T	ENSP00000512237.1:p.Val372Phe
ENST00000695882.1:n.341G>T