Canonical Allele Identifier: CA375631529

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391704T>C (hg19) ; chr9:g.136497252T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497252T>C , CM000671.2:g.136497252T>C	GRCh38
NC_000009.11:g.139391704T>C , CM000671.1:g.139391704T>C	GRCh37
NC_000009.10:g.138511525T>C	NCBI36
NG_007458.1:g.53535A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6487A>G MANE Select	ENSP00000498587.1:p.Ser2163Gly
ENST00000679595.1:c.*1527A>G	ENSP00000506241.1:n.*1527A>G
ENST00000679969.1:n.3083A>G
ENST00000680003.1:n.2819A>G
ENST00000680133.1:c.6373A>G	ENSP00000505319.1:p.Ser2125Gly
ENST00000680218.1:c.6367A>G	ENSP00000505339.1:p.Ser2123Gly
ENST00000680668.1:c.6373A>G	ENSP00000506336.1:p.Ser2125Gly
ENST00000680778.1:c.4084A>G	ENSP00000506033.1:p.Ser1362Gly
ENST00000680924.1:c.*3887A>G	ENSP00000506031.1:n.*3887A>G
ENST00000681135.1:c.*4096A>G	ENSP00000506636.1:n.*4096A>G
ENST00000681298.1:n.4592A>G
ENST00000681454.1:c.*5723A>G	ENSP00000505763.1:n.*5723A>G
ENST00000277541.6:c.6487A>G	ENSP00000277541.6:p.Ser2163Gly
NM_017617.3:c.6487A>G	NP_060087.3:p.Ser2163Gly
XM_011518717.1:c.5788A>G	XP_011517019.1:p.Ser1930Gly
NM_017617.5:c.6487A>G MANE Select	NP_060087.3:p.Ser2163Gly
XM_011518717.2:c.5764A>G	XP_011517019.2:p.Ser1922Gly