Canonical Allele Identifier: CA631722266

Gene: C3

Linked Data

• dbSNP Id: rs1175825987
• gnomAD v2: 19-6684872-C-A
• gnomAD v3: 19-6684861-C-A
• gnomAD v4: 19-6684861-C-A
• MyVariant Identifiers: chr19:g.6684872C>A (hg19) ; chr19:g.6684861C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6684861C>A , CM000681.2:g.6684861C>A	GRCh38
NC_000019.9:g.6684872C>A , CM000681.1:g.6684872C>A	GRCh37
NC_000019.8:g.6635872C>A	NCBI36
NG_009557.1:g.40791G>T , LRG_27:g.40791G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2318-27G>T
ENST00000695653.1:c.1879-27G>T	ENSP00000512084.1:n.1879-27G>T
ENST00000695654.1:c.2995-27G>T	ENSP00000512085.1:n.2995-27G>T
ENST00000695690.1:n.161-27G>T
ENST00000695691.1:n.161-27G>T
ENST00000245907.11:c.3970-27G>T MANE Select	ENSP00000245907.4:n.3970-27G>T
ENST00000245907.10:c.3970-27G>T	ENSP00000245907.4:n.3970-27G>T
ENST00000596238.1:n.413-27G>T
ENST00000596548.1:c.52-27G>T	ENSP00000469744.1:n.52-27G>T
ENST00000601008.1:c.241+1885G>T	ENSP00000471384.1:n.241+1885G>T
NM_000064.3:c.3970-27G>T	NP_000055.2:n.3970-27G>T
NM_000064.4:c.3970-27G>T MANE Select	NP_000055.2:n.3970-27G>T