Canonical Allele Identifier: CA375634898

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133323172
• MyVariant Identifiers: chr9:g.139393692G>C (hg19) ; chr9:g.136499240G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499240G>C , CM000671.2:g.136499240G>C	GRCh38
NC_000009.11:g.139393692G>C , CM000671.1:g.139393692G>C	GRCh37
NC_000009.10:g.138513513G>C	NCBI36
NG_007458.1:g.51547C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651671.1:c.5954C>G MANE Select	ENSP00000498587.1:p.Ala1985Gly
ENST00000679595.1:c.*994C>G	ENSP00000506241.1:n.*994C>G
ENST00000679969.1:n.2435C>G
ENST00000680003.1:n.2286C>G
ENST00000680133.1:c.5840C>G	ENSP00000505319.1:p.Ala1947Gly
ENST00000680218.1:c.5834C>G	ENSP00000505339.1:p.Ala1945Gly
ENST00000680668.1:c.5840C>G	ENSP00000506336.1:p.Ala1947Gly
ENST00000680778.1:c.3551C>G	ENSP00000506033.1:p.Ala1184Gly
ENST00000680924.1:c.*3354C>G	ENSP00000506031.1:n.*3354C>G
ENST00000681135.1:c.*3563C>G	ENSP00000506636.1:n.*3563C>G
ENST00000681298.1:n.4059C>G
ENST00000681454.1:c.*5190C>G	ENSP00000505763.1:n.*5190C>G
ENST00000277541.6:c.5954C>G	ENSP00000277541.6:p.Ala1985Gly
NM_017617.3:c.5954C>G	NP_060087.3:p.Ala1985Gly
XM_011518717.1:c.5255C>G	XP_011517019.1:p.Ala1752Gly
NM_017617.5:c.5954C>G MANE Select	NP_060087.3:p.Ala1985Gly
XM_011518717.2:c.5231C>G	XP_011517019.2:p.Ala1744Gly