Canonical Allele Identifier: CA374725387

Gene: C5

Linked Data

• gnomAD v4: 9-120974778-C-G
• MyVariant Identifiers: chr9:g.123737056C>G (hg19) ; chr9:g.120974778C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120974778C>G , CM000671.2:g.120974778C>G	GRCh38
NC_000009.11:g.123737056C>G , CM000671.1:g.123737056C>G	GRCh37
NC_000009.10:g.122776877C>G	NCBI36
NG_007364.1:g.80499G>C , LRG_28:g.80499G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.928+1G>C
ENST00000696279.1:c.4337+1G>C
ENST00000696280.1:n.4106+1G>C
ENST00000696281.1:c.4035+1G>C	ENSP00000512521.1:n.4035+1G>C
ENST00000697921.1:n.2895+1G>C
ENST00000697922.1:c.*4007+1G>C	ENSP00000513478.1:n.*4007+1G>C
ENST00000697923.1:n.4462+1G>C
ENST00000223642.3:c.4017+1G>C MANE Select	ENSP00000223642.1:n.4017+1G>C
ENST00000223642.2:c.4017+1G>C	ENSP00000223642.1:n.4017+1G>C
NM_001735.2:c.4017+1G>C , LRG_28t1:c.4017+1G>C	NP_001726.2:n.4017+1G>C
XM_011518980.1:c.4032+1G>C	XP_011517282.1:n.4032+1G>C
NM_001317163.1:c.4035+1G>C	NP_001304092.1:n.4035+1G>C
NM_001317163.2:c.4035+1G>C	NP_001304092.1:n.4035+1G>C
NM_001735.3:c.4017+1G>C MANE Select	NP_001726.2:n.4017+1G>C