Canonical Allele Identifier: CA304775652

Gene: C3

Linked Data

• dbSNP Id: rs543053699
• gnomAD v3: 19-6685998-C-T
• gnomAD v4: 19-6685998-C-T
• MyVariant Identifiers: chr19:g.6686009C>T (hg19) ; chr19:g.6685998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685998C>T , CM000681.2:g.6685998C>T	GRCh38
NC_000019.9:g.6686009C>T , CM000681.1:g.6686009C>T	GRCh37
NC_000019.8:g.6637009C>T	NCBI36
NG_009557.1:g.39654G>A , LRG_27:g.39654G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2158+126G>A
ENST00000695653.1:c.1719+126G>A	ENSP00000512084.1:n.1719+126G>A
ENST00000695654.1:c.2835+126G>A	ENSP00000512085.1:n.2835+126G>A
ENST00000245907.11:c.3810+126G>A MANE Select	ENSP00000245907.4:n.3810+126G>A
ENST00000245907.10:c.3810+126G>A	ENSP00000245907.4:n.3810+126G>A
ENST00000596238.1:n.253+126G>A
ENST00000601008.1:c.241+748G>A	ENSP00000471384.1:n.241+748G>A
NM_000064.3:c.3810+126G>A	NP_000055.2:n.3810+126G>A
NM_000064.4:c.3810+126G>A MANE Select	NP_000055.2:n.3810+126G>A