Canonical Allele Identifier: CA403618634

Gene: C3

Linked Data

• dbSNP Id: rs1599500231
• MyVariant Identifiers: chr19:g.6685142A>G (hg19) ; chr19:g.6685131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685131A>G , CM000681.2:g.6685131A>G	GRCh38
NC_000019.9:g.6685142A>G , CM000681.1:g.6685142A>G	GRCh37
NC_000019.8:g.6636142A>G	NCBI36
NG_009557.1:g.40521T>C , LRG_27:g.40521T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2174T>C
ENST00000695653.1:c.1735T>C	ENSP00000512084.1:p.Phe579Leu
ENST00000695654.1:c.2851T>C	ENSP00000512085.1:p.Phe951Leu
ENST00000695690.1:n.17T>C
ENST00000695691.1:n.17T>C
ENST00000245907.11:c.3826T>C MANE Select	ENSP00000245907.4:p.Phe1276Leu
ENST00000245907.10:c.3826T>C	ENSP00000245907.4:p.Phe1276Leu
ENST00000596238.1:n.269T>C
ENST00000601008.1:c.241+1615T>C	ENSP00000471384.1:n.241+1615T>C
NM_000064.3:c.3826T>C	NP_000055.2:p.Phe1276Leu
NM_000064.4:c.3826T>C MANE Select	NP_000055.2:p.Phe1276Leu