Canonical Allele Identifier: CA403642254

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713290T>G (hg19) ; chr19:g.6713279T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713279T>G , CM000681.2:g.6713279T>G	GRCh38
NC_000019.9:g.6713290T>G , CM000681.1:g.6713290T>G	GRCh37
NC_000019.8:g.6664290T>G	NCBI36
NG_009557.1:g.12373A>C , LRG_27:g.12373A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.790A>C	ENSP00000512083.1:p.Lys264Gln
ENST00000695654.1:c.37A>C	ENSP00000512085.1:p.Lys13Gln
ENST00000695692.1:n.237A>C
ENST00000245907.11:c.913A>C MANE Select	ENSP00000245907.4:p.Lys305Gln
ENST00000245907.10:c.913A>C	ENSP00000245907.4:p.Lys305Gln
ENST00000594270.5:n.37A>C
ENST00000595577.1:n.417A>C
ENST00000597442.5:n.163A>C
NM_000064.3:c.913A>C	NP_000055.2:p.Lys305Gln
NM_000064.4:c.913A>C MANE Select	NP_000055.2:p.Lys305Gln