Canonical Allele Identifier: CA374747613

Gene: C5

Linked Data

• dbSNP Id: rs761105830
• gnomAD v3: 9-120962940-T-A
• gnomAD v4: 9-120962940-T-A
• MyVariant Identifiers: chr9:g.123725218T>A (hg19) ; chr9:g.120962940T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962940T>A , CM000671.2:g.120962940T>A	GRCh38
NC_000009.11:g.123725218T>A , CM000671.1:g.123725218T>A	GRCh37
NC_000009.10:g.122765039T>A	NCBI36
NG_007364.1:g.92337A>T , LRG_28:g.92337A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1385A>T
ENST00000696279.1:c.4671A>T
ENST00000696280.1:n.4440A>T
ENST00000696281.1:c.4369A>T	ENSP00000512521.1:p.Thr1457Ser
ENST00000697921.1:n.3229A>T
ENST00000697922.1:c.*4341A>T	ENSP00000513478.1:n.*4341A>T
ENST00000697923.1:n.4796A>T
ENST00000223642.3:c.4351A>T MANE Select	ENSP00000223642.1:p.Thr1451Ser
ENST00000223642.2:c.4351A>T	ENSP00000223642.1:p.Thr1451Ser
NM_001735.2:c.4351A>T , LRG_28t1:c.4351A>T	NP_001726.2:p.Thr1451Ser
XM_011518980.1:c.4366A>T	XP_011517282.1:p.Thr1456Ser
NM_001317163.1:c.4369A>T	NP_001304092.1:p.Thr1457Ser
NM_001317163.2:c.4369A>T	NP_001304092.1:p.Thr1457Ser
NM_001735.3:c.4351A>T MANE Select	NP_001726.2:p.Thr1451Ser