Canonical Allele Identifier: CA631655243

Gene: C3

Linked Data

• dbSNP Id: rs1408570289
• gnomAD v2: 19-6690443-G-A
• gnomAD v3: 19-6690432-G-A
• gnomAD v4: 19-6690432-G-A
• MyVariant Identifiers: chr19:g.6690443G>A (hg19) ; chr19:g.6690432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6690432G>A , CM000681.2:g.6690432G>A	GRCh38
NC_000019.9:g.6690443G>A , CM000681.1:g.6690443G>A	GRCh37
NC_000019.8:g.6641443G>A	NCBI36
NG_009557.1:g.35220C>T , LRG_27:g.35220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1837+197C>T
ENST00000695652.1:c.3366+197C>T	ENSP00000512083.1:n.3366+197C>T
ENST00000695653.1:c.1398+197C>T	ENSP00000512084.1:n.1398+197C>T
ENST00000695654.1:c.2514+2492C>T	ENSP00000512085.1:n.2514+2492C>T
ENST00000695655.1:c.2430+197C>T	ENSP00000512086.1:n.2430+197C>T
ENST00000695692.1:n.2853+197C>T
ENST00000245907.11:c.3489+197C>T MANE Select	ENSP00000245907.4:n.3489+197C>T
ENST00000245907.10:c.3489+197C>T	ENSP00000245907.4:n.3489+197C>T
ENST00000598805.2:n.259+197C>T
ENST00000601008.1:c.84+197C>T	ENSP00000471384.1:n.84+197C>T
NM_000064.3:c.3489+197C>T	NP_000055.2:n.3489+197C>T
NM_000064.4:c.3489+197C>T MANE Select	NP_000055.2:n.3489+197C>T