Canonical Allele Identifier: CA9128647

Gene: C3

Linked Data

• ClinVar Variation Id: 1665735
• ClinVar RCV Id: RCV002193868 ; RCV003951313
• dbSNP Id: rs2230209
• ExAC: 19:6686192 G / A
• gnomAD v2: 19-6686192-G-A
• gnomAD v3: 19-6686181-G-A
• gnomAD v4: 19-6686181-G-A
• MyVariant Identifiers: chr19:g.6686192G>A (hg19) ; chr19:g.6686181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686181G>A , CM000681.2:g.6686181G>A	GRCh38
NC_000019.9:g.6686192G>A , CM000681.1:g.6686192G>A	GRCh37
NC_000019.8:g.6637192G>A	NCBI36
NG_009557.1:g.39471C>T , LRG_27:g.39471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2101C>T
ENST00000695652.1:c.3630C>T	ENSP00000512083.1:p.Pro1210=
ENST00000695653.1:c.1662C>T	ENSP00000512084.1:p.Pro554=
ENST00000695654.1:c.2778C>T	ENSP00000512085.1:p.Pro926=
ENST00000695655.1:c.2694C>T	ENSP00000512086.1:n.2694C>T
ENST00000695692.1:n.3117C>T
ENST00000245907.11:c.3753C>T MANE Select	ENSP00000245907.4:p.Pro1251=
ENST00000245907.10:c.3753C>T	ENSP00000245907.4:p.Pro1251=
ENST00000596238.1:n.196C>T
ENST00000601008.1:c.241+565C>T	ENSP00000471384.1:n.241+565C>T
NM_000064.3:c.3753C>T	NP_000055.2:p.Pro1251=
NM_000064.4:c.3753C>T MANE Select	NP_000055.2:p.Pro1251=