Canonical Allele Identifier: CA631722262

Gene: C3

Linked Data

• dbSNP Id: rs1372591173
• gnomAD v2: 19-6684849-C-T
• gnomAD v4: 19-6684838-C-T
• MyVariant Identifiers: chr19:g.6684849C>T (hg19) ; chr19:g.6684838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684838C>T , CM000681.2:g.6684838C>T	GRCh38
NC_000019.9:g.6684849C>T , CM000681.1:g.6684849C>T	GRCh37
NC_000019.8:g.6635849C>T	NCBI36
NG_009557.1:g.40814G>A , LRG_27:g.40814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2318-4G>A
ENST00000695653.1:c.1879-4G>A	ENSP00000512084.1:n.1879-4G>A
ENST00000695654.1:c.2995-4G>A	ENSP00000512085.1:n.2995-4G>A
ENST00000695690.1:n.161-4G>A
ENST00000695691.1:n.161-4G>A
ENST00000245907.11:c.3970-4G>A MANE Select	ENSP00000245907.4:n.3970-4G>A
ENST00000245907.10:c.3970-4G>A	ENSP00000245907.4:n.3970-4G>A
ENST00000596238.1:n.413-4G>A
ENST00000596548.1:c.52-4G>A	ENSP00000469744.1:n.52-4G>A
ENST00000601008.1:c.241+1908G>A	ENSP00000471384.1:n.241+1908G>A
NM_000064.3:c.3970-4G>A	NP_000055.2:n.3970-4G>A
NM_000064.4:c.3970-4G>A MANE Select	NP_000055.2:n.3970-4G>A