Canonical Allele Identifier: CA403643520

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6714422C>A (hg19) ; chr19:g.6714411C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714411C>A , CM000681.2:g.6714411C>A	GRCh38
NC_000019.9:g.6714422C>A , CM000681.1:g.6714422C>A	GRCh37
NC_000019.8:g.6665422C>A	NCBI36
NG_009557.1:g.11241G>T , LRG_27:g.11241G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.417G>T	ENSP00000512083.1:p.Leu139Phe
ENST00000245907.11:c.540G>T MANE Select	ENSP00000245907.4:p.Leu180Phe
ENST00000245907.10:c.540G>T	ENSP00000245907.4:p.Leu180Phe
NM_000064.3:c.540G>T	NP_000055.2:p.Leu180Phe
NM_000064.4:c.540G>T MANE Select	NP_000055.2:p.Leu180Phe