Canonical Allele Identifier: CA366067796

Gene: CCDC170

Linked Data

• dbSNP Id: rs1326408367
• gnomAD v2: 6-151936737-A-C
• gnomAD v4: 6-151615602-A-C
• MyVariant Identifiers: chr6:g.151936737A>C (hg19) ; chr6:g.151615602A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151615602A>C , CM000668.2:g.151615602A>C	GRCh38
NC_000006.11:g.151936737A>C , CM000668.1:g.151936737A>C	GRCh37
NC_000006.10:g.151978430A>C	NCBI36
NG_021198.1:g.126563A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239374.8:c.1870A>C MANE Select	ENSP00000239374.6:p.Asn624His
ENST00000239374.7:c.1870A>C	ENSP00000239374.6:p.Asn624His
NM_025059.3:c.1870A>C	NP_079335.2:p.Asn624His
XM_011536147.1:c.1888A>C	XP_011534449.1:p.Asn630His
XM_011536148.1:c.1687A>C	XP_011534450.1:p.Asn563His
XM_011536147.2:c.1888A>C	XP_011534449.1:p.Asn630His
XM_011536148.2:c.1687A>C	XP_011534450.1:p.Asn563His
XR_001743865.1:n.129+1119T>G
NM_025059.4:c.1870A>C MANE Select	NP_079335.2:p.Asn624His