Canonical Allele Identifier: CA403642542

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713449A>T (hg19) ; chr19:g.6713438A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713438A>T , CM000681.2:g.6713438A>T	GRCh38
NC_000019.9:g.6713449A>T , CM000681.1:g.6713449A>T	GRCh37
NC_000019.8:g.6664449A>T	NCBI36
NG_009557.1:g.12214T>A , LRG_27:g.12214T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.722T>A	ENSP00000512083.1:p.Ile241Asn
ENST00000695692.1:n.169T>A
ENST00000245907.11:c.845T>A MANE Select	ENSP00000245907.4:p.Ile282Asn
ENST00000245907.10:c.845T>A	ENSP00000245907.4:p.Ile282Asn
ENST00000595577.1:n.349T>A
ENST00000597442.5:n.95T>A
NM_000064.3:c.845T>A	NP_000055.2:p.Ile282Asn
NM_000064.4:c.845T>A MANE Select	NP_000055.2:p.Ile282Asn