Canonical Allele Identifier: CA403618546

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6685123T>A (hg19) ; chr19:g.6685112T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6685112T>A , CM000681.2:g.6685112T>A	GRCh38
NC_000019.9:g.6685123T>A , CM000681.1:g.6685123T>A	GRCh37
NC_000019.8:g.6636123T>A	NCBI36
NG_009557.1:g.40540A>T , LRG_27:g.40540A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2193A>T
ENST00000695653.1:c.1754A>T	ENSP00000512084.1:p.Tyr585Phe
ENST00000695654.1:c.2870A>T	ENSP00000512085.1:p.Tyr957Phe
ENST00000695690.1:n.36A>T
ENST00000695691.1:n.36A>T
ENST00000245907.11:c.3845A>T MANE Select	ENSP00000245907.4:p.Tyr1282Phe
ENST00000245907.10:c.3845A>T	ENSP00000245907.4:p.Tyr1282Phe
ENST00000596238.1:n.288A>T
ENST00000601008.1:c.241+1634A>T	ENSP00000471384.1:n.241+1634A>T
NM_000064.3:c.3845A>T	NP_000055.2:p.Tyr1282Phe
NM_000064.4:c.3845A>T MANE Select	NP_000055.2:p.Tyr1282Phe