Canonical Allele Identifier: CA403619515

Gene: C3

Linked Data

• dbSNP Id: rs1339935717
• gnomAD v2: 19-6686175-T-C
• gnomAD v4: 19-6686164-T-C
• MyVariant Identifiers: chr19:g.6686175T>C (hg19) ; chr19:g.6686164T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686164T>C , CM000681.2:g.6686164T>C	GRCh38
NC_000019.9:g.6686175T>C , CM000681.1:g.6686175T>C	GRCh37
NC_000019.8:g.6637175T>C	NCBI36
NG_009557.1:g.39488A>G , LRG_27:g.39488A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2118A>G
ENST00000695652.1:c.3647A>G	ENSP00000512083.1:p.Asn1216Ser
ENST00000695653.1:c.1679A>G	ENSP00000512084.1:p.Asn560Ser
ENST00000695654.1:c.2795A>G	ENSP00000512085.1:p.Asn932Ser
ENST00000695655.1:c.2711A>G	ENSP00000512086.1:n.2711A>G
ENST00000695692.1:n.3134A>G
ENST00000245907.11:c.3770A>G MANE Select	ENSP00000245907.4:p.Asn1257Ser
ENST00000245907.10:c.3770A>G	ENSP00000245907.4:p.Asn1257Ser
ENST00000596238.1:n.213A>G
ENST00000601008.1:c.241+582A>G	ENSP00000471384.1:n.241+582A>G
NM_000064.3:c.3770A>G	NP_000055.2:p.Asn1257Ser
NM_000064.4:c.3770A>G MANE Select	NP_000055.2:p.Asn1257Ser