Canonical Allele Identifier: CA375645846

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337644
• MyVariant Identifiers: chr9:g.139399509C>A (hg19) ; chr9:g.136505057C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505057C>A , CM000671.2:g.136505057C>A	GRCh38
NC_000009.11:g.139399509C>A , CM000671.1:g.139399509C>A	GRCh37
NC_000009.10:g.138519330C>A	NCBI36
NG_007458.1:g.45730G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2441G>T
ENST00000651671.1:c.4634G>T MANE Select	ENSP00000498587.1:p.Cys1545Phe
ENST00000679595.1:c.4634G>T	ENSP00000506241.1:p.Cys1545Phe
ENST00000680133.1:c.4520G>T	ENSP00000505319.1:p.Cys1507Phe
ENST00000680218.1:c.4514G>T	ENSP00000505339.1:p.Cys1505Phe
ENST00000680668.1:c.4520G>T	ENSP00000506336.1:p.Cys1507Phe
ENST00000680778.1:c.2231G>T	ENSP00000506033.1:p.Cys744Phe
ENST00000680924.1:c.*2034G>T	ENSP00000506031.1:n.*2034G>T
ENST00000681135.1:c.*2243G>T	ENSP00000506636.1:n.*2243G>T
ENST00000681298.1:n.1447G>T
ENST00000681454.1:c.*3870G>T	ENSP00000505763.1:n.*3870G>T
ENST00000277541.6:c.4634G>T	ENSP00000277541.6:p.Cys1545Phe
NM_017617.3:c.4634G>T	NP_060087.3:p.Cys1545Phe
XM_011518717.1:c.3935G>T	XP_011517019.1:p.Cys1312Phe
NM_017617.5:c.4634G>T MANE Select	NP_060087.3:p.Cys1545Phe
XM_011518717.2:c.3911G>T	XP_011517019.2:p.Cys1304Phe