Canonical Allele Identifier: CA375634403

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322735
• MyVariant Identifiers: chr9:g.139393608T>G (hg19) ; chr9:g.136499156T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499156T>G , CM000671.2:g.136499156T>G	GRCh38
NC_000009.11:g.139393608T>G , CM000671.1:g.139393608T>G	GRCh37
NC_000009.10:g.138513429T>G	NCBI36
NG_007458.1:g.51631A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6038A>C MANE Select	ENSP00000498587.1:p.Asp2013Ala
ENST00000679595.1:c.*1078A>C	ENSP00000506241.1:n.*1078A>C
ENST00000679969.1:n.2519A>C
ENST00000680003.1:n.2370A>C
ENST00000680133.1:c.5924A>C	ENSP00000505319.1:p.Asp1975Ala
ENST00000680218.1:c.5918A>C	ENSP00000505339.1:p.Asp1973Ala
ENST00000680668.1:c.5924A>C	ENSP00000506336.1:p.Asp1975Ala
ENST00000680778.1:c.3635A>C	ENSP00000506033.1:p.Asp1212Ala
ENST00000680924.1:c.*3438A>C	ENSP00000506031.1:n.*3438A>C
ENST00000681135.1:c.*3647A>C	ENSP00000506636.1:n.*3647A>C
ENST00000681298.1:n.4143A>C
ENST00000681454.1:c.*5274A>C	ENSP00000505763.1:n.*5274A>C
ENST00000277541.6:c.6038A>C	ENSP00000277541.6:p.Asp2013Ala
NM_017617.3:c.6038A>C	NP_060087.3:p.Asp2013Ala
XM_011518717.1:c.5339A>C	XP_011517019.1:p.Asp1780Ala
NM_017617.5:c.6038A>C MANE Select	NP_060087.3:p.Asp2013Ala
XM_011518717.2:c.5315A>C	XP_011517019.2:p.Asp1772Ala