Canonical Allele Identifier: CA859575699

Gene: C5

Linked Data

• dbSNP Id: rs1215819255
• gnomAD v3: 9-120962864-A-C
• gnomAD v4: 9-120962864-A-C
• MyVariant Identifiers: chr9:g.123725142A>C (hg19) ; chr9:g.120962864A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962864A>C , CM000671.2:g.120962864A>C	GRCh38
NC_000009.11:g.123725142A>C , CM000671.1:g.123725142A>C	GRCh37
NC_000009.10:g.122764963A>C	NCBI36
NG_007364.1:g.92413T>G , LRG_28:g.92413T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1432+29T>G
ENST00000696279.1:c.4718+29T>G
ENST00000696280.1:n.4487+29T>G
ENST00000696281.1:c.4416+29T>G	ENSP00000512521.1:n.4416+29T>G
ENST00000697921.1:n.3276+29T>G
ENST00000697922.1:c.*4388+29T>G	ENSP00000513478.1:n.*4388+29T>G
ENST00000697923.1:n.4843+29T>G
ENST00000223642.3:c.4398+29T>G MANE Select	ENSP00000223642.1:n.4398+29T>G
ENST00000223642.2:c.4398+29T>G	ENSP00000223642.1:n.4398+29T>G
NM_001735.2:c.4398+29T>G , LRG_28t1:c.4398+29T>G	NP_001726.2:n.4398+29T>G
XM_011518980.1:c.4413+29T>G	XP_011517282.1:n.4413+29T>G
NM_001317163.1:c.4416+29T>G	NP_001304092.1:n.4416+29T>G
NM_001317163.2:c.4416+29T>G	NP_001304092.1:n.4416+29T>G
NM_001735.3:c.4398+29T>G MANE Select	NP_001726.2:n.4398+29T>G