Canonical Allele Identifier: CA343281575

Gene: NCSTN NHLH1

Linked Data

• ClinVar Variation Id: 225419
• ClinVar RCV Id: RCV000490379
• dbSNP Id: rs1085307081
• gnomAD v2: 1-160324028-C-T
• gnomAD v4: 1-160354238-C-T
• MyVariant Identifiers: chr1:g.160324028C>T (hg19) ; chr1:g.160354238C>T (hg38)
• PubMed: PMID:20929727 ; PMID:22358060

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160354238C>T , CM000663.2:g.160354238C>T	GRCh38
NC_000001.10:g.160324028C>T , CM000663.1:g.160324028C>T	GRCh37
NC_000001.9:g.158590652C>T	NCBI36
NG_027935.1:g.15966C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000421914.6:c.886C>T (NCSTN)	ENSP00000390409.2:p.Arg296Ter
ENST00000459963.6:c.*698C>T (NCSTN)	ENSP00000493689.2:n.*698C>T
ENST00000491390.2:n.102C>T (NCSTN)
ENST00000699526.1:n.2283C>T (NCSTN)
ENST00000699527.1:c.*291C>T (NCSTN)	ENSP00000514419.1:n.*291C>T
ENST00000699528.1:c.1300C>T (NCSTN)	ENSP00000514420.1:p.Arg434Ter
ENST00000699529.1:n.1629C>T (NCSTN)
ENST00000699530.1:c.*733C>T (NCSTN)	ENSP00000514421.1:n.*733C>T
ENST00000699531.1:n.1381C>T (NCSTN)
ENST00000699532.1:c.1300C>T (NCSTN)	ENSP00000514422.1:p.Arg434Ter
ENST00000699533.1:n.1230C>T (NCSTN)
ENST00000699534.1:n.2358C>T (NCSTN)
ENST00000699535.1:n.1629C>T (NCSTN)
ENST00000699536.1:n.1381C>T (NCSTN)
ENST00000699537.1:n.967C>T (NCSTN)
ENST00000699538.1:c.1195C>T (NCSTN)	ENSP00000514423.1:p.Arg399Ter
ENST00000699539.1:n.2261C>T (NCSTN)
ENST00000699540.1:c.*519C>T (NCSTN)	ENSP00000514424.1:n.*519C>T
ENST00000699541.1:c.1300C>T (NCSTN)	ENSP00000514425.1:p.Arg434Ter
ENST00000699542.1:n.1629C>T (NCSTN)
ENST00000699543.1:c.*291C>T (NCSTN)	ENSP00000514426.1:n.*291C>T
ENST00000699544.1:n.1478C>T (NCSTN)
ENST00000699545.1:c.*519C>T (NCSTN)	ENSP00000514427.1:n.*519C>T
ENST00000699546.1:c.1039C>T (NCSTN)	ENSP00000514428.1:p.Arg347Ter
ENST00000699547.1:n.1478C>T (NCSTN)
ENST00000699548.1:n.1704C>T (NCSTN)
ENST00000699549.1:c.886C>T (NCSTN)	ENSP00000514429.1:p.Arg296Ter
ENST00000699550.1:n.1952C>T (NCSTN)
ENST00000699551.1:n.1381C>T (NCSTN)
ENST00000699552.1:n.1381C>T (NCSTN)
ENST00000699553.1:c.1195C>T (NCSTN)	ENSP00000514430.1:p.Arg399Ter
ENST00000699554.1:c.*565C>T (NCSTN)	ENSP00000514431.1:n.*565C>T
ENST00000699556.1:n.2001C>T (NCSTN)
ENST00000294785.10:c.1300C>T (NCSTN) MANE Select	ENSP00000294785.5:p.Arg434Ter
ENST00000368063.6:c.*1229C>T (NCSTN)	ENSP00000357042.2:n.*1229C>T
ENST00000424645.6:c.798C>T (NCSTN)
ENST00000294785.9:c.1300C>T (NCSTN)	ENSP00000294785.5:p.Arg434Ter
ENST00000368063.5:c.1240C>T (NCSTN)	ENSP00000357042.1:p.Arg414Ter
ENST00000424645.5:c.807C>T (NCSTN)
ENST00000424754.5:c.532C>T (NCSTN)	ENSP00000410124.1:p.Arg178Ter
ENST00000435149.1:c.330C>T (NCSTN)
ENST00000459963.5:n.907C>T (NCSTN)
NM_001290184.1:c.1240C>T (NCSTN)	NP_001277113.1:p.Arg414Ter
NM_001290186.1:c.886C>T (NCSTN)	NP_001277115.1:p.Arg296Ter
NM_015331.2:c.1300C>T (NCSTN)	NP_056146.1:p.Arg434Ter
XM_011509363.1:c.1300C>T (NCSTN)	XP_011507665.1:p.Arg434Ter
XM_011509364.1:c.1018C>T (NCSTN)	XP_011507666.1:p.Arg340Ter
XM_011509584.1:c.-175-16319C>T (NHLH1)	XP_011507886.1:n.-175-16319C>T
NM_001349729.1:c.1300C>T (NCSTN)	NP_001336658.1:p.Arg434Ter
NM_015331.3:c.1300C>T (NCSTN) MANE Select	NP_056146.1:p.Arg434Ter
NM_001290184.2:c.1240C>T (NCSTN)	NP_001277113.1:p.Arg414Ter
NM_001290186.2:c.886C>T (NCSTN)	NP_001277115.1:p.Arg296Ter
NM_001349729.2:c.1300C>T (NCSTN)	NP_001336658.1:p.Arg434Ter