Canonical Allele Identifier: CA631662378

Gene: C3

Linked Data

• dbSNP Id: rs1375701869
• gnomAD v2: 19-6714129-G-A
• gnomAD v3: 19-6714118-G-A
• gnomAD v4: 19-6714118-G-A
• MyVariant Identifiers: chr19:g.6714129G>A (hg19) ; chr19:g.6714118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714118G>A , CM000681.2:g.6714118G>A	GRCh38
NC_000019.9:g.6714129G>A , CM000681.1:g.6714129G>A	GRCh37
NC_000019.8:g.6665129G>A	NCBI36
NG_009557.1:g.11534C>T , LRG_27:g.11534C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.560-36C>T	ENSP00000512083.1:n.560-36C>T
ENST00000245907.11:c.683-36C>T MANE Select	ENSP00000245907.4:n.683-36C>T
ENST00000245907.10:c.683-36C>T	ENSP00000245907.4:n.683-36C>T
ENST00000595577.1:n.187-36C>T
NM_000064.3:c.683-36C>T	NP_000055.2:n.683-36C>T
NM_000064.4:c.683-36C>T MANE Select	NP_000055.2:n.683-36C>T