Canonical Allele Identifier: CA1128783985

Gene: C5

Linked Data

• dbSNP Id: rs2046768972
• gnomAD v3: 9-120954239-T-A
• gnomAD v4: 9-120954239-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954239T>A , CM000671.2:g.120954239T>A	GRCh38
NC_000009.11:g.123716517T>A , CM000671.1:g.123716517T>A	GRCh37
NC_000009.10:g.122756338T>A	NCBI36
NG_007364.1:g.101038A>T , LRG_28:g.101038A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.4842A>T
ENST00000696279.1:c.5083-371A>T
ENST00000696280.1:n.4852-371A>T
ENST00000696281.1:c.4781-371A>T	ENSP00000512521.1:n.4781-371A>T
ENST00000697921.1:n.3641-371A>T
ENST00000697922.1:c.*4753-371A>T	ENSP00000513478.1:n.*4753-371A>T
ENST00000697923.1:n.8253A>T
ENST00000223642.3:c.4763-371A>T MANE Select	ENSP00000223642.1:n.4763-371A>T
ENST00000223642.2:c.4763-371A>T	ENSP00000223642.1:n.4763-371A>T
NM_001735.2:c.4763-371A>T , LRG_28t1:c.4763-371A>T	NP_001726.2:n.4763-371A>T
XM_011518980.1:c.4778-371A>T	XP_011517282.1:n.4778-371A>T
NM_001317163.1:c.4781-371A>T	NP_001304092.1:n.4781-371A>T
NM_001317163.2:c.4781-371A>T	NP_001304092.1:n.4781-371A>T
NM_001735.3:c.4763-371A>T MANE Select	NP_001726.2:n.4763-371A>T