Canonical Allele Identifier: CA375631613

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318444
• MyVariant Identifiers: chr9:g.139391724T>A (hg19) ; chr9:g.136497272T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497272T>A , CM000671.2:g.136497272T>A	GRCh38
NC_000009.11:g.139391724T>A , CM000671.1:g.139391724T>A	GRCh37
NC_000009.10:g.138511545T>A	NCBI36
NG_007458.1:g.53515A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6467A>T MANE Select	ENSP00000498587.1:p.Lys2156Met
ENST00000679595.1:c.*1507A>T	ENSP00000506241.1:n.*1507A>T
ENST00000679969.1:n.3063A>T
ENST00000680003.1:n.2799A>T
ENST00000680133.1:c.6353A>T	ENSP00000505319.1:p.Lys2118Met
ENST00000680218.1:c.6347A>T	ENSP00000505339.1:p.Lys2116Met
ENST00000680668.1:c.6353A>T	ENSP00000506336.1:p.Lys2118Met
ENST00000680778.1:c.4064A>T	ENSP00000506033.1:p.Lys1355Met
ENST00000680924.1:c.*3867A>T	ENSP00000506031.1:n.*3867A>T
ENST00000681135.1:c.*4076A>T	ENSP00000506636.1:n.*4076A>T
ENST00000681298.1:n.4572A>T
ENST00000681454.1:c.*5703A>T	ENSP00000505763.1:n.*5703A>T
ENST00000277541.6:c.6467A>T	ENSP00000277541.6:p.Lys2156Met
NM_017617.3:c.6467A>T	NP_060087.3:p.Lys2156Met
XM_011518717.1:c.5768A>T	XP_011517019.1:p.Lys1923Met
NM_017617.5:c.6467A>T MANE Select	NP_060087.3:p.Lys2156Met
XM_011518717.2:c.5744A>T	XP_011517019.2:p.Lys1915Met