Canonical Allele Identifier: CA403633031

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6697479T>G (hg19) ; chr19:g.6697468T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697468T>G , CM000681.2:g.6697468T>G	GRCh38
NC_000019.9:g.6697479T>G , CM000681.1:g.6697479T>G	GRCh37
NC_000019.8:g.6648479T>G	NCBI36
NG_009557.1:g.28184A>C , LRG_27:g.28184A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1020A>C
ENST00000695652.1:c.2549A>C	ENSP00000512083.1:p.Lys850Thr
ENST00000695653.1:c.581A>C	ENSP00000512084.1:p.Lys194Thr
ENST00000695654.1:c.1796A>C	ENSP00000512085.1:p.Lys599Thr
ENST00000695655.1:c.1613A>C	ENSP00000512086.1:n.1613A>C
ENST00000695692.1:n.2036A>C
ENST00000245907.11:c.2672A>C MANE Select	ENSP00000245907.4:p.Lys891Thr
ENST00000245907.10:c.2672A>C	ENSP00000245907.4:p.Lys891Thr
ENST00000594005.1:n.248A>C
NM_000064.3:c.2672A>C	NP_000055.2:p.Lys891Thr
NM_000064.4:c.2672A>C MANE Select	NP_000055.2:p.Lys891Thr