Canonical Allele Identifier: CA375631404

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318154
• MyVariant Identifiers: chr9:g.139391667T>A (hg19) ; chr9:g.136497215T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497215T>A , CM000671.2:g.136497215T>A	GRCh38
NC_000009.11:g.139391667T>A , CM000671.1:g.139391667T>A	GRCh37
NC_000009.10:g.138511488T>A	NCBI36
NG_007458.1:g.53572A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6524A>T MANE Select	ENSP00000498587.1:p.Asp2175Val
ENST00000679595.1:c.*1564A>T	ENSP00000506241.1:n.*1564A>T
ENST00000679969.1:n.3120A>T
ENST00000680003.1:n.2856A>T
ENST00000680133.1:c.6410A>T	ENSP00000505319.1:p.Asp2137Val
ENST00000680218.1:c.6404A>T	ENSP00000505339.1:p.Asp2135Val
ENST00000680668.1:c.6410A>T	ENSP00000506336.1:p.Asp2137Val
ENST00000680778.1:c.4121A>T	ENSP00000506033.1:p.Asp1374Val
ENST00000680924.1:c.*3924A>T	ENSP00000506031.1:n.*3924A>T
ENST00000681135.1:c.*4133A>T	ENSP00000506636.1:n.*4133A>T
ENST00000681298.1:n.4629A>T
ENST00000681454.1:c.*5760A>T	ENSP00000505763.1:n.*5760A>T
ENST00000277541.6:c.6524A>T	ENSP00000277541.6:p.Asp2175Val
NM_017617.3:c.6524A>T	NP_060087.3:p.Asp2175Val
XM_011518717.1:c.5825A>T	XP_011517019.1:p.Asp1942Val
NM_017617.5:c.6524A>T MANE Select	NP_060087.3:p.Asp2175Val
XM_011518717.2:c.5801A>T	XP_011517019.2:p.Asp1934Val