Canonical Allele Identifier: CA403619975

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686259T>G (hg19) ; chr19:g.6686248T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686248T>G , CM000681.2:g.6686248T>G	GRCh38
NC_000019.9:g.6686259T>G , CM000681.1:g.6686259T>G	GRCh37
NC_000019.8:g.6637259T>G	NCBI36
NG_009557.1:g.39404A>C , LRG_27:g.39404A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2034A>C
ENST00000695652.1:c.3563A>C	ENSP00000512083.1:p.Asn1188Thr
ENST00000695653.1:c.1595A>C	ENSP00000512084.1:p.Asn532Thr
ENST00000695654.1:c.2711A>C	ENSP00000512085.1:p.Asn904Thr
ENST00000695655.1:c.2627A>C	ENSP00000512086.1:n.2627A>C
ENST00000695692.1:n.3050A>C
ENST00000245907.11:c.3686A>C MANE Select	ENSP00000245907.4:p.Asn1229Thr
ENST00000245907.10:c.3686A>C	ENSP00000245907.4:p.Asn1229Thr
ENST00000596238.1:n.129A>C
ENST00000601008.1:c.241+498A>C	ENSP00000471384.1:n.241+498A>C
NM_000064.3:c.3686A>C	NP_000055.2:p.Asn1229Thr
NM_000064.4:c.3686A>C MANE Select	NP_000055.2:p.Asn1229Thr