Canonical Allele Identifier: CA375634134

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321939
• MyVariant Identifiers: chr9:g.139393443A>T (hg19) ; chr9:g.136498991A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498991A>T , CM000671.2:g.136498991A>T	GRCh38
NC_000009.11:g.139393443A>T , CM000671.1:g.139393443A>T	GRCh37
NC_000009.10:g.138513264A>T	NCBI36
NG_007458.1:g.51796T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6088T>A MANE Select	ENSP00000498587.1:p.Ser2030Thr
ENST00000679595.1:c.*1128T>A	ENSP00000506241.1:n.*1128T>A
ENST00000679969.1:n.2684T>A
ENST00000680003.1:n.2420T>A
ENST00000680133.1:c.5974T>A	ENSP00000505319.1:p.Ser1992Thr
ENST00000680218.1:c.5968T>A	ENSP00000505339.1:p.Ser1990Thr
ENST00000680668.1:c.5974T>A	ENSP00000506336.1:p.Ser1992Thr
ENST00000680778.1:c.3685T>A	ENSP00000506033.1:p.Ser1229Thr
ENST00000680924.1:c.*3488T>A	ENSP00000506031.1:n.*3488T>A
ENST00000681135.1:c.*3697T>A	ENSP00000506636.1:n.*3697T>A
ENST00000681298.1:n.4193T>A
ENST00000681454.1:c.*5324T>A	ENSP00000505763.1:n.*5324T>A
ENST00000277541.6:c.6088T>A	ENSP00000277541.6:p.Ser2030Thr
NM_017617.3:c.6088T>A	NP_060087.3:p.Ser2030Thr
XM_011518717.1:c.5389T>A	XP_011517019.1:p.Ser1797Thr
NM_017617.5:c.6088T>A MANE Select	NP_060087.3:p.Ser2030Thr
XM_011518717.2:c.5365T>A	XP_011517019.2:p.Ser1789Thr