Canonical Allele Identifier: CA375645656

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337503
• MyVariant Identifiers: chr9:g.139399476C>A (hg19) ; chr9:g.136505024C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505024C>A , CM000671.2:g.136505024C>A	GRCh38
NC_000009.11:g.139399476C>A , CM000671.1:g.139399476C>A	GRCh37
NC_000009.10:g.138519297C>A	NCBI36
NG_007458.1:g.45763G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2474G>T
ENST00000651671.1:c.4667G>T MANE Select	ENSP00000498587.1:p.Trp1556Leu
ENST00000679595.1:c.4667G>T	ENSP00000506241.1:p.Trp1556Leu
ENST00000680133.1:c.4553G>T	ENSP00000505319.1:p.Trp1518Leu
ENST00000680218.1:c.4547G>T	ENSP00000505339.1:p.Trp1516Leu
ENST00000680668.1:c.4553G>T	ENSP00000506336.1:p.Trp1518Leu
ENST00000680778.1:c.2264G>T	ENSP00000506033.1:p.Trp755Leu
ENST00000680924.1:c.*2067G>T	ENSP00000506031.1:n.*2067G>T
ENST00000681135.1:c.*2276G>T	ENSP00000506636.1:n.*2276G>T
ENST00000681298.1:n.1480G>T
ENST00000681454.1:c.*3903G>T	ENSP00000505763.1:n.*3903G>T
ENST00000277541.6:c.4667G>T	ENSP00000277541.6:p.Trp1556Leu
NM_017617.3:c.4667G>T	NP_060087.3:p.Trp1556Leu
XM_011518717.1:c.3968G>T	XP_011517019.1:p.Trp1323Leu
NM_017617.5:c.4667G>T MANE Select	NP_060087.3:p.Trp1556Leu
XM_011518717.2:c.3944G>T	XP_011517019.2:p.Trp1315Leu