Canonical Allele Identifier: CA403614884

Gene: C3

Linked Data

• dbSNP Id: rs2145393273
• gnomAD v3: 19-6681998-C-G
• gnomAD v4: 19-6681998-C-G
• MyVariant Identifiers: chr19:g.6682009C>G (hg19) ; chr19:g.6681998C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6681998C>G , CM000681.2:g.6681998C>G	GRCh38
NC_000019.9:g.6682009C>G , CM000681.1:g.6682009C>G	GRCh37
NC_000019.8:g.6633009C>G	NCBI36
NG_009557.1:g.43654G>C , LRG_27:g.43654G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2641G>C
ENST00000695653.1:c.2202G>C	ENSP00000512084.1:p.Lys734Asn
ENST00000695654.1:c.3318G>C	ENSP00000512085.1:p.Lys1106Asn
ENST00000695689.1:c.264G>C	ENSP00000512101.1:n.264G>C
ENST00000695690.1:n.484G>C
ENST00000695691.1:n.484G>C
ENST00000245907.11:c.4293G>C MANE Select	ENSP00000245907.4:p.Lys1431Asn
ENST00000245907.10:c.4293G>C	ENSP00000245907.4:p.Lys1431Asn
ENST00000596548.1:c.414G>C	ENSP00000469744.1:p.Lys138Asn
ENST00000599899.5:n.1252G>C
ENST00000601008.1:c.242-4040G>C	ENSP00000471384.1:n.242-4040G>C
NM_000064.3:c.4293G>C	NP_000055.2:p.Lys1431Asn
NM_000064.4:c.4293G>C MANE Select	NP_000055.2:p.Lys1431Asn