Canonical Allele Identifier: CA9128377
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 893747
ClinVar RCV Id: RCV001132612 RCV001132613 RCV001132614 RCV001856710
dbSNP Id: rs140928439
ExAC: 19:6679493 G / A
gnomAD v2: 19-6679493-G-A
gnomAD v3: 19-6679482-G-A
gnomAD v4: 19-6679482-G-A
COSMIC: COSM1291040
MyVariant Identifiers: chr19:g.6679493G>A (hg19) chr19:g.6679482G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679482G>A , CM000681.2:g.6679482G>A GRCh38
NC_000019.9:g.6679493G>A , CM000681.1:g.6679493G>A GRCh37
NC_000019.8:g.6630493G>A NCBI36
NG_009557.1:g.46170C>T , LRG_27:g.46170C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2819C>T
ENST00000695653.1:c.2380C>T ENSP00000512084.1:p.Arg794Trp
ENST00000695654.1:c.3496C>T ENSP00000512085.1:p.Arg1166Trp
ENST00000695689.1:c.442C>T ENSP00000512101.1:n.442C>T
ENST00000695690.1:n.1536C>T
ENST00000695691.1:n.1332C>T
ENST00000245907.11:c.4471C>T MANE Select ENSP00000245907.4:p.Arg1491Trp
ENST00000245907.10:c.4471C>T ENSP00000245907.4:p.Arg1491Trp
ENST00000599668.1:n.66C>T
ENST00000599899.5:n.1430C>T
ENST00000601008.1:c.242-1524C>T ENSP00000471384.1:n.242-1524C>T
NM_000064.3:c.4471C>T NP_000055.2:p.Arg1491Trp
NM_000064.4:c.4471C>T MANE Select NP_000055.2:p.Arg1491Trp
Search 100 bp 5'
Search 100 bp 3'