Canonical Allele Identifier: CA375634272

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322563
• MyVariant Identifiers: chr9:g.139393578G>C (hg19) ; chr9:g.136499126G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499126G>C , CM000671.2:g.136499126G>C	GRCh38
NC_000009.11:g.139393578G>C , CM000671.1:g.139393578G>C	GRCh37
NC_000009.10:g.138513399G>C	NCBI36
NG_007458.1:g.51661C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6068C>G MANE Select	ENSP00000498587.1:p.Ala2023Gly
ENST00000679595.1:c.*1108C>G	ENSP00000506241.1:n.*1108C>G
ENST00000679969.1:n.2549C>G
ENST00000680003.1:n.2400C>G
ENST00000680133.1:c.5954C>G	ENSP00000505319.1:p.Ala1985Gly
ENST00000680218.1:c.5948C>G	ENSP00000505339.1:p.Ala1983Gly
ENST00000680668.1:c.5954C>G	ENSP00000506336.1:p.Ala1985Gly
ENST00000680778.1:c.3665C>G	ENSP00000506033.1:p.Ala1222Gly
ENST00000680924.1:c.*3468C>G	ENSP00000506031.1:n.*3468C>G
ENST00000681135.1:c.*3677C>G	ENSP00000506636.1:n.*3677C>G
ENST00000681298.1:n.4173C>G
ENST00000681454.1:c.*5304C>G	ENSP00000505763.1:n.*5304C>G
ENST00000277541.6:c.6068C>G	ENSP00000277541.6:p.Ala2023Gly
NM_017617.3:c.6068C>G	NP_060087.3:p.Ala2023Gly
XM_011518717.1:c.5369C>G	XP_011517019.1:p.Ala1790Gly
NM_017617.5:c.6068C>G MANE Select	NP_060087.3:p.Ala2023Gly
XM_011518717.2:c.5345C>G	XP_011517019.2:p.Ala1782Gly