Canonical Allele Identifier: CA403632594
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2867816
ClinVar RCV Id: RCV003702967
dbSNP Id: rs1282976875
gnomAD v2: 19-6697378-C-T
gnomAD v3: 19-6697367-C-T
gnomAD v4: 19-6697367-C-T
MyVariant Identifiers: chr19:g.6697378C>T (hg19) chr19:g.6697367C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697367C>T , CM000681.2:g.6697367C>T GRCh38
NC_000019.9:g.6697378C>T , CM000681.1:g.6697378C>T GRCh37
NC_000019.8:g.6648378C>T NCBI36
NG_009557.1:g.28285G>A , LRG_27:g.28285G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1121G>A
ENST00000695652.1:c.2650G>A ENSP00000512083.1:p.Val884Ile
ENST00000695653.1:c.682G>A ENSP00000512084.1:p.Val228Ile
ENST00000695654.1:c.1897G>A ENSP00000512085.1:p.Val633Ile
ENST00000695655.1:c.1714G>A ENSP00000512086.1:n.1714G>A
ENST00000695692.1:n.2137G>A
ENST00000245907.11:c.2773G>A MANE Select ENSP00000245907.4:p.Val925Ile
ENST00000245907.10:c.2773G>A ENSP00000245907.4:p.Val925Ile
ENST00000594005.1:n.349G>A
NM_000064.3:c.2773G>A NP_000055.2:p.Val925Ile
NM_000064.4:c.2773G>A MANE Select NP_000055.2:p.Val925Ile
Search 100 bp 5'
Search 100 bp 3'