Canonical Allele Identifier: CA403642926

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6714028C>A (hg19) ; chr19:g.6714017C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714017C>A , CM000681.2:g.6714017C>A	GRCh38
NC_000019.9:g.6714028C>A , CM000681.1:g.6714028C>A	GRCh37
NC_000019.8:g.6665028C>A	NCBI36
NG_009557.1:g.11635G>T , LRG_27:g.11635G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.625G>T	ENSP00000512083.1:p.Gly209Cys
ENST00000245907.11:c.748G>T MANE Select	ENSP00000245907.4:p.Gly250Cys
ENST00000245907.10:c.748G>T	ENSP00000245907.4:p.Gly250Cys
ENST00000595577.1:n.252G>T
NM_000064.3:c.748G>T	NP_000055.2:p.Gly250Cys
NM_000064.4:c.748G>T MANE Select	NP_000055.2:p.Gly250Cys