Canonical Allele Identifier: CA403618622

Gene: C3

Linked Data

• dbSNP Id: rs1917969725
• gnomAD v3: 19-6685129-G-C
• gnomAD v4: 19-6685129-G-C
• MyVariant Identifiers: chr19:g.6685140G>C (hg19) ; chr19:g.6685129G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685129G>C , CM000681.2:g.6685129G>C	GRCh38
NC_000019.9:g.6685140G>C , CM000681.1:g.6685140G>C	GRCh37
NC_000019.8:g.6636140G>C	NCBI36
NG_009557.1:g.40523C>G , LRG_27:g.40523C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2176C>G
ENST00000695653.1:c.1737C>G	ENSP00000512084.1:p.Phe579Leu
ENST00000695654.1:c.2853C>G	ENSP00000512085.1:p.Phe951Leu
ENST00000695690.1:n.19C>G
ENST00000695691.1:n.19C>G
ENST00000245907.11:c.3828C>G MANE Select	ENSP00000245907.4:p.Phe1276Leu
ENST00000245907.10:c.3828C>G	ENSP00000245907.4:p.Phe1276Leu
ENST00000596238.1:n.271C>G
ENST00000601008.1:c.241+1617C>G	ENSP00000471384.1:n.241+1617C>G
NM_000064.3:c.3828C>G	NP_000055.2:p.Phe1276Leu
NM_000064.4:c.3828C>G MANE Select	NP_000055.2:p.Phe1276Leu