Canonical Allele Identifier: CA505122332

Gene: C3

Linked Data

• dbSNP Id: rs1456233401
• gnomAD v3: 19-6682010-T-C
• gnomAD v4: 19-6682010-T-C
• MyVariant Identifiers: chr19:g.6682021T>C (hg19) ; chr19:g.6682010T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682010T>C , CM000681.2:g.6682010T>C	GRCh38
NC_000019.9:g.6682021T>C , CM000681.1:g.6682021T>C	GRCh37
NC_000019.8:g.6633021T>C	NCBI36
NG_009557.1:g.43642A>G , LRG_27:g.43642A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2629A>G
ENST00000695653.1:c.2190A>G	ENSP00000512084.1:p.Arg730=
ENST00000695654.1:c.3306A>G	ENSP00000512085.1:p.Arg1102=
ENST00000695689.1:c.252A>G	ENSP00000512101.1:n.252A>G
ENST00000695690.1:n.472A>G
ENST00000695691.1:n.472A>G
ENST00000245907.11:c.4281A>G MANE Select	ENSP00000245907.4:p.Arg1427=
ENST00000245907.10:c.4281A>G	ENSP00000245907.4:p.Arg1427=
ENST00000596548.1:c.402A>G	ENSP00000469744.1:p.Arg134=
ENST00000599899.5:n.1240A>G
ENST00000601008.1:c.242-4052A>G	ENSP00000471384.1:n.242-4052A>G
NM_000064.3:c.4281A>G	NP_000055.2:p.Arg1427=
NM_000064.4:c.4281A>G MANE Select	NP_000055.2:p.Arg1427=