Canonical Allele Identifier: CA9128985

Gene: C3

Linked Data

• ClinVar Variation Id: 3003233
• ClinVar RCV Id: RCV003867848 ; RCV004369529
• dbSNP Id: rs761075541
• ExAC: 19:6697439 C / A
• gnomAD v2: 19-6697439-C-A
• gnomAD v3: 19-6697428-C-A
• gnomAD v4: 19-6697428-C-A
• MyVariant Identifiers: chr19:g.6697439C>A (hg19) ; chr19:g.6697428C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697428C>A , CM000681.2:g.6697428C>A	GRCh38
NC_000019.9:g.6697439C>A , CM000681.1:g.6697439C>A	GRCh37
NC_000019.8:g.6648439C>A	NCBI36
NG_009557.1:g.28224G>T , LRG_27:g.28224G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1060G>T
ENST00000695652.1:c.2589G>T	ENSP00000512083.1:p.Lys863Asn
ENST00000695653.1:c.621G>T	ENSP00000512084.1:p.Lys207Asn
ENST00000695654.1:c.1836G>T	ENSP00000512085.1:p.Lys612Asn
ENST00000695655.1:c.1653G>T	ENSP00000512086.1:n.1653G>T
ENST00000695692.1:n.2076G>T
ENST00000245907.11:c.2712G>T MANE Select	ENSP00000245907.4:p.Lys904Asn
ENST00000245907.10:c.2712G>T	ENSP00000245907.4:p.Lys904Asn
ENST00000594005.1:n.288G>T
NM_000064.3:c.2712G>T	NP_000055.2:p.Lys904Asn
NM_000064.4:c.2712G>T MANE Select	NP_000055.2:p.Lys904Asn