Canonical Allele Identifier: CA375645768

Gene: NOTCH1

Linked Data

• COSMIC: COSM308585
• MyVariant Identifiers: chr9:g.139399494T>G (hg19) ; chr9:g.136505042T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505042T>G , CM000671.2:g.136505042T>G	GRCh38
NC_000009.11:g.139399494T>G , CM000671.1:g.139399494T>G	GRCh37
NC_000009.10:g.138519315T>G	NCBI36
NG_007458.1:g.45745A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2456A>C
ENST00000651671.1:c.4649A>C MANE Select	ENSP00000498587.1:p.Asn1550Thr
ENST00000679595.1:c.4649A>C	ENSP00000506241.1:p.Asn1550Thr
ENST00000680133.1:c.4535A>C	ENSP00000505319.1:p.Asn1512Thr
ENST00000680218.1:c.4529A>C	ENSP00000505339.1:p.Asn1510Thr
ENST00000680668.1:c.4535A>C	ENSP00000506336.1:p.Asn1512Thr
ENST00000680778.1:c.2246A>C	ENSP00000506033.1:p.Asn749Thr
ENST00000680924.1:c.*2049A>C	ENSP00000506031.1:n.*2049A>C
ENST00000681135.1:c.*2258A>C	ENSP00000506636.1:n.*2258A>C
ENST00000681298.1:n.1462A>C
ENST00000681454.1:c.*3885A>C	ENSP00000505763.1:n.*3885A>C
ENST00000277541.6:c.4649A>C	ENSP00000277541.6:p.Asn1550Thr
NM_017617.3:c.4649A>C	NP_060087.3:p.Asn1550Thr
XM_011518717.1:c.3950A>C	XP_011517019.1:p.Asn1317Thr
NM_017617.5:c.4649A>C MANE Select	NP_060087.3:p.Asn1550Thr
XM_011518717.2:c.3926A>C	XP_011517019.2:p.Asn1309Thr