Canonical Allele Identifier: CA631664146

Gene: C3

Linked Data

• dbSNP Id: rs879589386
• gnomAD v2: 19-6719479-G-A
• gnomAD v3: 19-6719468-G-A
• gnomAD v4: 19-6719468-G-A
• MyVariant Identifiers: chr19:g.6719479G>A (hg19) ; chr19:g.6719468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6719468G>A , CM000681.2:g.6719468G>A	GRCh38
NC_000019.9:g.6719479G>A , CM000681.1:g.6719479G>A	GRCh37
NC_000019.8:g.6670479G>A	NCBI36
NG_009557.1:g.6184C>T , LRG_27:g.6184C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000594936.2:n.136-65C>T
ENST00000695652.1:c.-49-65C>T	ENSP00000512083.1:n.-49-65C>T
ENST00000695693.1:c.75-65C>T	ENSP00000512104.1:n.75-65C>T
ENST00000245907.11:c.75-65C>T MANE Select	ENSP00000245907.4:n.75-65C>T
ENST00000245907.10:c.75-65C>T	ENSP00000245907.4:n.75-65C>T
ENST00000594936.1:n.136-65C>T
ENST00000600744.1:c.-49-65C>T	ENSP00000472044.1:n.-49-65C>T
NM_000064.3:c.75-65C>T	NP_000055.2:n.75-65C>T
NM_000064.4:c.75-65C>T MANE Select	NP_000055.2:n.75-65C>T