Canonical Allele Identifier: CA375644945

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336719
• COSMIC: COSM12771 ; COSM327160
• MyVariant Identifiers: chr9:g.139399344A>G (hg19) ; chr9:g.136504892A>G (hg38)
• CIViC: CA375644945

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504892A>G , CM000671.2:g.136504892A>G	GRCh38
NC_000009.11:g.139399344A>G , CM000671.1:g.139399344A>G	GRCh37
NC_000009.10:g.138519165A>G	NCBI36
NG_007458.1:g.45895T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2606T>C
ENST00000651671.1:c.4799T>C MANE Select	ENSP00000498587.1:p.Leu1600Pro
ENST00000679595.1:c.4799T>C	ENSP00000506241.1:p.Leu1600Pro
ENST00000680133.1:c.4685T>C	ENSP00000505319.1:p.Leu1562Pro
ENST00000680218.1:c.4679T>C	ENSP00000505339.1:p.Leu1560Pro
ENST00000680668.1:c.4685T>C	ENSP00000506336.1:p.Leu1562Pro
ENST00000680778.1:c.2396T>C	ENSP00000506033.1:p.Leu799Pro
ENST00000680924.1:c.*2199T>C	ENSP00000506031.1:n.*2199T>C
ENST00000681135.1:c.*2408T>C	ENSP00000506636.1:n.*2408T>C
ENST00000681298.1:n.1612T>C
ENST00000681454.1:c.*4035T>C	ENSP00000505763.1:n.*4035T>C
ENST00000277541.6:c.4799T>C	ENSP00000277541.6:p.Leu1600Pro
NM_017617.3:c.4799T>C	NP_060087.3:p.Leu1600Pro
XM_011518717.1:c.4100T>C	XP_011517019.1:p.Leu1367Pro
NM_017617.5:c.4799T>C MANE Select	NP_060087.3:p.Leu1600Pro
XM_011518717.2:c.4076T>C	XP_011517019.2:p.Leu1359Pro