Canonical Allele Identifier: CA375645255

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337115
• COSMIC: COSM4774957 ; COSM4774958
• MyVariant Identifiers: chr9:g.139399405T>G (hg19) ; chr9:g.136504953T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504953T>G , CM000671.2:g.136504953T>G	GRCh38
NC_000009.11:g.139399405T>G , CM000671.1:g.139399405T>G	GRCh37
NC_000009.10:g.138519226T>G	NCBI36
NG_007458.1:g.45834A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2545A>C
ENST00000651671.1:c.4738A>C MANE Select	ENSP00000498587.1:p.Met1580Leu
ENST00000679595.1:c.4738A>C	ENSP00000506241.1:p.Met1580Leu
ENST00000680133.1:c.4624A>C	ENSP00000505319.1:p.Met1542Leu
ENST00000680218.1:c.4618A>C	ENSP00000505339.1:p.Met1540Leu
ENST00000680668.1:c.4624A>C	ENSP00000506336.1:p.Met1542Leu
ENST00000680778.1:c.2335A>C	ENSP00000506033.1:p.Met779Leu
ENST00000680924.1:c.*2138A>C	ENSP00000506031.1:n.*2138A>C
ENST00000681135.1:c.*2347A>C	ENSP00000506636.1:n.*2347A>C
ENST00000681298.1:n.1551A>C
ENST00000681454.1:c.*3974A>C	ENSP00000505763.1:n.*3974A>C
ENST00000277541.6:c.4738A>C	ENSP00000277541.6:p.Met1580Leu
NM_017617.3:c.4738A>C	NP_060087.3:p.Met1580Leu
XM_011518717.1:c.4039A>C	XP_011517019.1:p.Met1347Leu
NM_017617.5:c.4738A>C MANE Select	NP_060087.3:p.Met1580Leu
XM_011518717.2:c.4015A>C	XP_011517019.2:p.Met1339Leu