Canonical Allele Identifier: CA9128383

Gene: C3

Linked Data

• dbSNP Id: rs759236119
• ExAC: 19:6679525 G / A
• gnomAD v2: 19-6679525-G-A
• gnomAD v3: 19-6679514-G-A
• gnomAD v4: 19-6679514-G-A
• MyVariant Identifiers: chr19:g.6679525G>A (hg19) ; chr19:g.6679514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679514G>A , CM000681.2:g.6679514G>A	GRCh38
NC_000019.9:g.6679525G>A , CM000681.1:g.6679525G>A	GRCh37
NC_000019.8:g.6630525G>A	NCBI36
NG_009557.1:g.46138C>T , LRG_27:g.46138C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695651.1:n.2805-18C>T
ENST00000695653.1:c.2366-18C>T	ENSP00000512084.1:n.2366-18C>T
ENST00000695654.1:c.3482-18C>T	ENSP00000512085.1:n.3482-18C>T
ENST00000695689.1:c.428-18C>T	ENSP00000512101.1:n.428-18C>T
ENST00000695690.1:n.1522-18C>T
ENST00000695691.1:n.1318-18C>T
ENST00000245907.11:c.4457-18C>T MANE Select	ENSP00000245907.4:n.4457-18C>T
ENST00000245907.10:c.4457-18C>T	ENSP00000245907.4:n.4457-18C>T
ENST00000599668.1:n.52-18C>T
ENST00000599899.5:n.1416-18C>T
ENST00000601008.1:c.242-1556C>T	ENSP00000471384.1:n.242-1556C>T
NM_000064.3:c.4457-18C>T	NP_000055.2:n.4457-18C>T
NM_000064.4:c.4457-18C>T MANE Select	NP_000055.2:n.4457-18C>T