Canonical Allele Identifier: CA403619379

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686148T>A (hg19) ; chr19:g.6686137T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686137T>A , CM000681.2:g.6686137T>A	GRCh38
NC_000019.9:g.6686148T>A , CM000681.1:g.6686148T>A	GRCh37
NC_000019.8:g.6637148T>A	NCBI36
NG_009557.1:g.39515A>T , LRG_27:g.39515A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2145A>T
ENST00000695652.1:c.3674A>T	ENSP00000512083.1:p.Tyr1225Phe
ENST00000695653.1:c.1706A>T	ENSP00000512084.1:p.Tyr569Phe
ENST00000695654.1:c.2822A>T	ENSP00000512085.1:p.Tyr941Phe
ENST00000695655.1:c.2738A>T	ENSP00000512086.1:n.2738A>T
ENST00000695692.1:n.3161A>T
ENST00000245907.11:c.3797A>T MANE Select	ENSP00000245907.4:p.Tyr1266Phe
ENST00000245907.10:c.3797A>T	ENSP00000245907.4:p.Tyr1266Phe
ENST00000596238.1:n.240A>T
ENST00000601008.1:c.241+609A>T	ENSP00000471384.1:n.241+609A>T
NM_000064.3:c.3797A>T	NP_000055.2:p.Tyr1266Phe
NM_000064.4:c.3797A>T MANE Select	NP_000055.2:p.Tyr1266Phe