Canonical Allele Identifier: CA375634080

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321859
• MyVariant Identifiers: chr9:g.139393430C>A (hg19) ; chr9:g.136498978C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498978C>A , CM000671.2:g.136498978C>A	GRCh38
NC_000009.11:g.139393430C>A , CM000671.1:g.139393430C>A	GRCh37
NC_000009.10:g.138513251C>A	NCBI36
NG_007458.1:g.51809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6101G>T MANE Select	ENSP00000498587.1:p.Trp2034Leu
ENST00000679595.1:c.*1141G>T	ENSP00000506241.1:n.*1141G>T
ENST00000679969.1:n.2697G>T
ENST00000680003.1:n.2433G>T
ENST00000680133.1:c.5987G>T	ENSP00000505319.1:p.Trp1996Leu
ENST00000680218.1:c.5981G>T	ENSP00000505339.1:p.Trp1994Leu
ENST00000680668.1:c.5987G>T	ENSP00000506336.1:p.Trp1996Leu
ENST00000680778.1:c.3698G>T	ENSP00000506033.1:p.Trp1233Leu
ENST00000680924.1:c.*3501G>T	ENSP00000506031.1:n.*3501G>T
ENST00000681135.1:c.*3710G>T	ENSP00000506636.1:n.*3710G>T
ENST00000681298.1:n.4206G>T
ENST00000681454.1:c.*5337G>T	ENSP00000505763.1:n.*5337G>T
ENST00000277541.6:c.6101G>T	ENSP00000277541.6:p.Trp2034Leu
NM_017617.3:c.6101G>T	NP_060087.3:p.Trp2034Leu
XM_011518717.1:c.5402G>T	XP_011517019.1:p.Trp1801Leu
NM_017617.5:c.6101G>T MANE Select	NP_060087.3:p.Trp2034Leu
XM_011518717.2:c.5378G>T	XP_011517019.2:p.Trp1793Leu