Canonical Allele Identifier: CA375631585

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318410
• MyVariant Identifiers: chr9:g.139391718A>G (hg19) ; chr9:g.136497266A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497266A>G , CM000671.2:g.136497266A>G	GRCh38
NC_000009.11:g.139391718A>G , CM000671.1:g.139391718A>G	GRCh37
NC_000009.10:g.138511539A>G	NCBI36
NG_007458.1:g.53521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6473T>C MANE Select	ENSP00000498587.1:p.Val2158Ala
ENST00000679595.1:c.*1513T>C	ENSP00000506241.1:n.*1513T>C
ENST00000679969.1:n.3069T>C
ENST00000680003.1:n.2805T>C
ENST00000680133.1:c.6359T>C	ENSP00000505319.1:p.Val2120Ala
ENST00000680218.1:c.6353T>C	ENSP00000505339.1:p.Val2118Ala
ENST00000680668.1:c.6359T>C	ENSP00000506336.1:p.Val2120Ala
ENST00000680778.1:c.4070T>C	ENSP00000506033.1:p.Val1357Ala
ENST00000680924.1:c.*3873T>C	ENSP00000506031.1:n.*3873T>C
ENST00000681135.1:c.*4082T>C	ENSP00000506636.1:n.*4082T>C
ENST00000681298.1:n.4578T>C
ENST00000681454.1:c.*5709T>C	ENSP00000505763.1:n.*5709T>C
ENST00000277541.6:c.6473T>C	ENSP00000277541.6:p.Val2158Ala
NM_017617.3:c.6473T>C	NP_060087.3:p.Val2158Ala
XM_011518717.1:c.5774T>C	XP_011517019.1:p.Val1925Ala
NM_017617.5:c.6473T>C MANE Select	NP_060087.3:p.Val2158Ala
XM_011518717.2:c.5750T>C	XP_011517019.2:p.Val1917Ala