Canonical Allele Identifier: CA375631132

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317846
• COSMIC: COSM5880333
• MyVariant Identifiers: chr9:g.139391599A>G (hg19) ; chr9:g.136497147A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497147A>G , CM000671.2:g.136497147A>G	GRCh38
NC_000009.11:g.139391599A>G , CM000671.1:g.139391599A>G	GRCh37
NC_000009.10:g.138511420A>G	NCBI36
NG_007458.1:g.53640T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6592T>C MANE Select	ENSP00000498587.1:p.Ser2198Pro
ENST00000679595.1:c.*1632T>C	ENSP00000506241.1:n.*1632T>C
ENST00000679969.1:n.3188T>C
ENST00000680003.1:n.2924T>C
ENST00000680133.1:c.6478T>C	ENSP00000505319.1:p.Ser2160Pro
ENST00000680218.1:c.6472T>C	ENSP00000505339.1:p.Ser2158Pro
ENST00000680668.1:c.6478T>C	ENSP00000506336.1:p.Ser2160Pro
ENST00000680778.1:c.4189T>C	ENSP00000506033.1:p.Ser1397Pro
ENST00000680924.1:c.*3992T>C	ENSP00000506031.1:n.*3992T>C
ENST00000681135.1:c.*4201T>C	ENSP00000506636.1:n.*4201T>C
ENST00000681298.1:n.4697T>C
ENST00000681454.1:c.*5828T>C	ENSP00000505763.1:n.*5828T>C
ENST00000277541.6:c.6592T>C	ENSP00000277541.6:p.Ser2198Pro
NM_017617.3:c.6592T>C	NP_060087.3:p.Ser2198Pro
XM_011518717.1:c.5893T>C	XP_011517019.1:p.Ser1965Pro
NM_017617.5:c.6592T>C MANE Select	NP_060087.3:p.Ser2198Pro
XM_011518717.2:c.5869T>C	XP_011517019.2:p.Ser1957Pro