Canonical Allele Identifier: CA375633844

Gene: NOTCH1

Linked Data

• dbSNP Id: rs759344174
• MyVariant Identifiers: chr9:g.139393382T>G (hg19) ; chr9:g.136498930T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498930T>G , CM000671.2:g.136498930T>G	GRCh38
NC_000009.11:g.139393382T>G , CM000671.1:g.139393382T>G	GRCh37
NC_000009.10:g.138513203T>G	NCBI36
NG_007458.1:g.51857A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6149A>C MANE Select	ENSP00000498587.1:p.Asn2050Thr
ENST00000679595.1:c.*1189A>C	ENSP00000506241.1:n.*1189A>C
ENST00000679969.1:n.2745A>C
ENST00000680003.1:n.2481A>C
ENST00000680133.1:c.6035A>C	ENSP00000505319.1:p.Asn2012Thr
ENST00000680218.1:c.6029A>C	ENSP00000505339.1:p.Asn2010Thr
ENST00000680668.1:c.6035A>C	ENSP00000506336.1:p.Asn2012Thr
ENST00000680778.1:c.3746A>C	ENSP00000506033.1:p.Asn1249Thr
ENST00000680924.1:c.*3549A>C	ENSP00000506031.1:n.*3549A>C
ENST00000681135.1:c.*3758A>C	ENSP00000506636.1:n.*3758A>C
ENST00000681298.1:n.4254A>C
ENST00000681454.1:c.*5385A>C	ENSP00000505763.1:n.*5385A>C
ENST00000277541.6:c.6149A>C	ENSP00000277541.6:p.Asn2050Thr
NM_017617.3:c.6149A>C	NP_060087.3:p.Asn2050Thr
XM_011518717.1:c.5450A>C	XP_011517019.1:p.Asn1817Thr
NM_017617.5:c.6149A>C MANE Select	NP_060087.3:p.Asn2050Thr
XM_011518717.2:c.5426A>C	XP_011517019.2:p.Asn1809Thr