Canonical Allele Identifier: CA403634084

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6697770T>A (hg19) ; chr19:g.6697759T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697759T>A , CM000681.2:g.6697759T>A	GRCh38
NC_000019.9:g.6697770T>A , CM000681.1:g.6697770T>A	GRCh37
NC_000019.8:g.6648770T>A	NCBI36
NG_009557.1:g.27893A>T , LRG_27:g.27893A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.824A>T
ENST00000695652.1:c.2353A>T	ENSP00000512083.1:p.Met785Leu
ENST00000695653.1:c.385A>T	ENSP00000512084.1:p.Met129Leu
ENST00000695654.1:c.1600A>T	ENSP00000512085.1:p.Met534Leu
ENST00000695655.1:c.1417A>T	ENSP00000512086.1:n.1417A>T
ENST00000695692.1:n.1840A>T
ENST00000245907.11:c.2476A>T MANE Select	ENSP00000245907.4:p.Met826Leu
ENST00000245907.10:c.2476A>T	ENSP00000245907.4:p.Met826Leu
ENST00000602053.1:n.524A>T
NM_000064.3:c.2476A>T	NP_000055.2:p.Met826Leu
NM_000064.4:c.2476A>T MANE Select	NP_000055.2:p.Met826Leu