Canonical Allele Identifier: CA374746334

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123724991G>A (hg19) ; chr9:g.120962713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962713G>A , CM000671.2:g.120962713G>A	GRCh38
NC_000009.11:g.123724991G>A , CM000671.1:g.123724991G>A	GRCh37
NC_000009.10:g.122764812G>A	NCBI36
NG_007364.1:g.92564C>T , LRG_28:g.92564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1496C>T
ENST00000696279.1:c.4782C>T
ENST00000696280.1:n.4551C>T
ENST00000696281.1:c.4480C>T	ENSP00000512521.1:p.Leu1494Phe
ENST00000697921.1:n.3340C>T
ENST00000697922.1:c.*4452C>T	ENSP00000513478.1:n.*4452C>T
ENST00000697923.1:n.4907C>T
ENST00000223642.3:c.4462C>T MANE Select	ENSP00000223642.1:p.Leu1488Phe
ENST00000223642.2:c.4462C>T	ENSP00000223642.1:p.Leu1488Phe
NM_001735.2:c.4462C>T , LRG_28t1:c.4462C>T	NP_001726.2:p.Leu1488Phe
XM_011518980.1:c.4477C>T	XP_011517282.1:p.Leu1493Phe
NM_001317163.1:c.4480C>T	NP_001304092.1:p.Leu1494Phe
NM_001317163.2:c.4480C>T	NP_001304092.1:p.Leu1494Phe
NM_001735.3:c.4462C>T MANE Select	NP_001726.2:p.Leu1488Phe