Canonical Allele Identifier: CA374747611

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725217G>A (hg19) ; chr9:g.120962939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962939G>A , CM000671.2:g.120962939G>A	GRCh38
NC_000009.11:g.123725217G>A , CM000671.1:g.123725217G>A	GRCh37
NC_000009.10:g.122765038G>A	NCBI36
NG_007364.1:g.92338C>T , LRG_28:g.92338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1386C>T
ENST00000696279.1:c.4672C>T
ENST00000696280.1:n.4441C>T
ENST00000696281.1:c.4370C>T	ENSP00000512521.1:p.Thr1457Ile
ENST00000697921.1:n.3230C>T
ENST00000697922.1:c.*4342C>T	ENSP00000513478.1:n.*4342C>T
ENST00000697923.1:n.4797C>T
ENST00000223642.3:c.4352C>T MANE Select	ENSP00000223642.1:p.Thr1451Ile
ENST00000223642.2:c.4352C>T	ENSP00000223642.1:p.Thr1451Ile
NM_001735.2:c.4352C>T , LRG_28t1:c.4352C>T	NP_001726.2:p.Thr1451Ile
XM_011518980.1:c.4367C>T	XP_011517282.1:p.Thr1456Ile
NM_001317163.1:c.4370C>T	NP_001304092.1:p.Thr1457Ile
NM_001317163.2:c.4370C>T	NP_001304092.1:p.Thr1457Ile
NM_001735.3:c.4352C>T MANE Select	NP_001726.2:p.Thr1451Ile