Canonical Allele Identifier: CA4051988
Gene: CCDC170 HGNC NCBI

Linked Data

ClinVar Variation Id: 792060
ClinVar RCV Id: RCV000975135
dbSNP Id: rs73780818
ExAC: 6:151936711 C / A
gnomAD v2: 6-151936711-C-A
gnomAD v3: 6-151615576-C-A
gnomAD v4: 6-151615576-C-A
MyVariant Identifiers: chr6:g.151936711C>A (hg19) chr6:g.151615576C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151615576C>A , CM000668.2:g.151615576C>A GRCh38
NC_000006.11:g.151936711C>A , CM000668.1:g.151936711C>A GRCh37
NC_000006.10:g.151978404C>A NCBI36
NG_021198.1:g.126537C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239374.8:c.1844C>A MANE Select ENSP00000239374.6:p.Ala615Asp
ENST00000239374.7:c.1844C>A ENSP00000239374.6:p.Ala615Asp
NM_025059.3:c.1844C>A NP_079335.2:p.Ala615Asp
XM_011536147.1:c.1862C>A XP_011534449.1:p.Ala621Asp
XM_011536148.1:c.1661C>A XP_011534450.1:p.Ala554Asp
XM_011536147.2:c.1862C>A XP_011534449.1:p.Ala621Asp
XM_011536148.2:c.1661C>A XP_011534450.1:p.Ala554Asp
XR_001743865.1:n.129+1145G>T
NM_025059.4:c.1844C>A MANE Select NP_079335.2:p.Ala615Asp
Search 100 bp 5'
Search 100 bp 3'