Canonical Allele Identifier: CA9128456

Gene: C3

Linked Data

• dbSNP Id: rs758275799
• ExAC: 19:6682104 C / T
• gnomAD v2: 19-6682104-C-T
• gnomAD v4: 19-6682093-C-T
• MyVariant Identifiers: chr19:g.6682104C>T (hg19) ; chr19:g.6682093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682093C>T , CM000681.2:g.6682093C>T	GRCh38
NC_000019.9:g.6682104C>T , CM000681.1:g.6682104C>T	GRCh37
NC_000019.8:g.6633104C>T	NCBI36
NG_009557.1:g.43559G>A , LRG_27:g.43559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2608+49G>A
ENST00000695653.1:c.2169+49G>A	ENSP00000512084.1:n.2169+49G>A
ENST00000695654.1:c.3285+49G>A	ENSP00000512085.1:n.3285+49G>A
ENST00000695689.1:c.231+49G>A	ENSP00000512101.1:n.231+49G>A
ENST00000695690.1:n.451+49G>A
ENST00000695691.1:n.451+49G>A
ENST00000245907.11:c.4260+49G>A MANE Select	ENSP00000245907.4:n.4260+49G>A
ENST00000245907.10:c.4260+49G>A	ENSP00000245907.4:n.4260+49G>A
ENST00000596548.1:c.381+49G>A	ENSP00000469744.1:n.381+49G>A
ENST00000599899.5:n.1219+49G>A
ENST00000601008.1:c.242-4135G>A	ENSP00000471384.1:n.242-4135G>A
NM_000064.3:c.4260+49G>A	NP_000055.2:n.4260+49G>A
NM_000064.4:c.4260+49G>A MANE Select	NP_000055.2:n.4260+49G>A