Canonical Allele Identifier: CA505122274
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1539568
ClinVar RCV Id: RCV002169642
dbSNP Id: rs2145393259
MyVariant Identifiers: chr19:g.6681997G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681986G>A , CM000681.2:g.6681986G>A GRCh38
NC_000019.9:g.6681997G>A , CM000681.1:g.6681997G>A GRCh37
NC_000019.8:g.6632997G>A NCBI36
NG_009557.1:g.43666C>T , LRG_27:g.43666C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2653C>T
ENST00000695653.1:c.2214C>T ENSP00000512084.1:p.Asp738=
ENST00000695654.1:c.3330C>T ENSP00000512085.1:p.Asp1110=
ENST00000695689.1:c.276C>T ENSP00000512101.1:n.276C>T
ENST00000695690.1:n.496C>T
ENST00000695691.1:n.496C>T
ENST00000245907.11:c.4305C>T MANE Select ENSP00000245907.4:p.Asp1435=
ENST00000245907.10:c.4305C>T ENSP00000245907.4:p.Asp1435=
ENST00000596548.1:c.426C>T ENSP00000469744.1:p.Asp142=
ENST00000599899.5:n.1264C>T
ENST00000601008.1:c.242-4028C>T ENSP00000471384.1:n.242-4028C>T
NM_000064.3:c.4305C>T NP_000055.2:p.Asp1435=
NM_000064.4:c.4305C>T MANE Select NP_000055.2:p.Asp1435=