Canonical Allele Identifier: CA9129733

Gene: C3

Linked Data

• dbSNP Id: rs754458846
• ExAC: 19:6714155 C / A
• gnomAD v2: 19-6714155-C-A
• gnomAD v4: 19-6714144-C-A
• MyVariant Identifiers: chr19:g.6714155C>A (hg19) ; chr19:g.6714144C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714144C>A , CM000681.2:g.6714144C>A	GRCh38
NC_000019.9:g.6714155C>A , CM000681.1:g.6714155C>A	GRCh37
NC_000019.8:g.6665155C>A	NCBI36
NG_009557.1:g.11508G>T , LRG_27:g.11508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.559+22G>T	ENSP00000512083.1:n.559+22G>T
ENST00000245907.11:c.682+22G>T MANE Select	ENSP00000245907.4:n.682+22G>T
ENST00000245907.10:c.682+22G>T	ENSP00000245907.4:n.682+22G>T
ENST00000595577.1:n.186+22G>T
NM_000064.3:c.682+22G>T	NP_000055.2:n.682+22G>T
NM_000064.4:c.682+22G>T MANE Select	NP_000055.2:n.682+22G>T