Canonical Allele Identifier: CA375634335

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322650
• MyVariant Identifiers: chr9:g.139393593T>A (hg19) ; chr9:g.136499141T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499141T>A , CM000671.2:g.136499141T>A	GRCh38
NC_000009.11:g.139393593T>A , CM000671.1:g.139393593T>A	GRCh37
NC_000009.10:g.138513414T>A	NCBI36
NG_007458.1:g.51646A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6053A>T MANE Select	ENSP00000498587.1:p.His2018Leu
ENST00000679595.1:c.*1093A>T	ENSP00000506241.1:n.*1093A>T
ENST00000679969.1:n.2534A>T
ENST00000680003.1:n.2385A>T
ENST00000680133.1:c.5939A>T	ENSP00000505319.1:p.His1980Leu
ENST00000680218.1:c.5933A>T	ENSP00000505339.1:p.His1978Leu
ENST00000680668.1:c.5939A>T	ENSP00000506336.1:p.His1980Leu
ENST00000680778.1:c.3650A>T	ENSP00000506033.1:p.His1217Leu
ENST00000680924.1:c.*3453A>T	ENSP00000506031.1:n.*3453A>T
ENST00000681135.1:c.*3662A>T	ENSP00000506636.1:n.*3662A>T
ENST00000681298.1:n.4158A>T
ENST00000681454.1:c.*5289A>T	ENSP00000505763.1:n.*5289A>T
ENST00000277541.6:c.6053A>T	ENSP00000277541.6:p.His2018Leu
NM_017617.3:c.6053A>T	NP_060087.3:p.His2018Leu
XM_011518717.1:c.5354A>T	XP_011517019.1:p.His1785Leu
NM_017617.5:c.6053A>T MANE Select	NP_060087.3:p.His2018Leu
XM_011518717.2:c.5330A>T	XP_011517019.2:p.His1777Leu