Canonical Allele Identifier: CA631650538

Gene: C3

Linked Data

• dbSNP Id: rs1476249809
• gnomAD v2: 19-6679280-T-C
• gnomAD v4: 19-6679269-T-C
• MyVariant Identifiers: chr19:g.6679280T>C (hg19) ; chr19:g.6679269T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679269T>C , CM000681.2:g.6679269T>C	GRCh38
NC_000019.9:g.6679280T>C , CM000681.1:g.6679280T>C	GRCh37
NC_000019.8:g.6630280T>C	NCBI36
NG_009557.1:g.46383A>G , LRG_27:g.46383A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2895-61A>G
ENST00000695653.1:c.2456-61A>G	ENSP00000512084.1:n.2456-61A>G
ENST00000695654.1:c.3572-61A>G	ENSP00000512085.1:n.3572-61A>G
ENST00000695689.1:c.518-61A>G	ENSP00000512101.1:n.518-61A>G
ENST00000695690.1:n.1612-61A>G
ENST00000695691.1:n.1408-61A>G
ENST00000245907.11:c.4547-61A>G MANE Select	ENSP00000245907.4:n.4547-61A>G
ENST00000245907.10:c.4547-61A>G	ENSP00000245907.4:n.4547-61A>G
ENST00000599668.1:n.167-61A>G
ENST00000599899.5:n.1506-61A>G
ENST00000601008.1:c.242-1311A>G	ENSP00000471384.1:n.242-1311A>G
NM_000064.3:c.4547-61A>G	NP_000055.2:n.4547-61A>G
NM_000064.4:c.4547-61A>G MANE Select	NP_000055.2:n.4547-61A>G