Canonical Allele Identifier: CA505192357

Gene: C3

Linked Data

• dbSNP Id: rs1422061114
• gnomAD v2: 19-6697538-G-A
• gnomAD v4: 19-6697527-G-A
• MyVariant Identifiers: chr19:g.6697538G>A (hg19) ; chr19:g.6697527G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697527G>A , CM000681.2:g.6697527G>A	GRCh38
NC_000019.9:g.6697538G>A , CM000681.1:g.6697538G>A	GRCh37
NC_000019.8:g.6648538G>A	NCBI36
NG_009557.1:g.28125C>T , LRG_27:g.28125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.961C>T
ENST00000695652.1:c.2490C>T	ENSP00000512083.1:p.Ala830=
ENST00000695653.1:c.522C>T	ENSP00000512084.1:p.Ala174=
ENST00000695654.1:c.1737C>T	ENSP00000512085.1:p.Ala579=
ENST00000695655.1:c.1554C>T	ENSP00000512086.1:n.1554C>T
ENST00000695692.1:n.1977C>T
ENST00000245907.11:c.2613C>T MANE Select	ENSP00000245907.4:p.Ala871=
ENST00000245907.10:c.2613C>T	ENSP00000245907.4:p.Ala871=
ENST00000594005.1:n.189C>T
NM_000064.3:c.2613C>T	NP_000055.2:p.Ala871=
NM_000064.4:c.2613C>T MANE Select	NP_000055.2:p.Ala871=