Canonical Allele Identifier: CA4052039
Gene: CCDC170 HGNC NCBI

Linked Data

dbSNP Id: rs763837168
ExAC: 6:151939265 T / C
gnomAD v2: 6-151939265-T-C
gnomAD v4: 6-151618130-T-C
MyVariant Identifiers: chr6:g.151939265T>C (hg19) chr6:g.151618130T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151618130T>C , CM000668.2:g.151618130T>C GRCh38
NC_000006.11:g.151939265T>C , CM000668.1:g.151939265T>C GRCh37
NC_000006.10:g.151980958T>C NCBI36
NG_021198.1:g.129091T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239374.8:c.2131T>C MANE Select ENSP00000239374.6:p.Leu711=
ENST00000239374.7:c.2131T>C ENSP00000239374.6:p.Leu711=
NM_025059.3:c.2131T>C NP_079335.2:p.Leu711=
XM_011536147.1:c.2149T>C XP_011534449.1:p.Leu717=
XM_011536148.1:c.1948T>C XP_011534450.1:p.Leu650=
XM_011536147.2:c.2149T>C XP_011534449.1:p.Leu717=
XM_011536148.2:c.1948T>C XP_011534450.1:p.Leu650=
NM_025059.4:c.2131T>C MANE Select NP_079335.2:p.Leu711=
Search 100 bp 5'
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