Canonical Allele Identifier: CA375631541

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391707T>C (hg19) ; chr9:g.136497255T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497255T>C , CM000671.2:g.136497255T>C	GRCh38
NC_000009.11:g.139391707T>C , CM000671.1:g.139391707T>C	GRCh37
NC_000009.10:g.138511528T>C	NCBI36
NG_007458.1:g.53532A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6484A>G MANE Select	ENSP00000498587.1:p.Ser2162Gly
ENST00000679595.1:c.*1524A>G	ENSP00000506241.1:n.*1524A>G
ENST00000679969.1:n.3080A>G
ENST00000680003.1:n.2816A>G
ENST00000680133.1:c.6370A>G	ENSP00000505319.1:p.Ser2124Gly
ENST00000680218.1:c.6364A>G	ENSP00000505339.1:p.Ser2122Gly
ENST00000680668.1:c.6370A>G	ENSP00000506336.1:p.Ser2124Gly
ENST00000680778.1:c.4081A>G	ENSP00000506033.1:p.Ser1361Gly
ENST00000680924.1:c.*3884A>G	ENSP00000506031.1:n.*3884A>G
ENST00000681135.1:c.*4093A>G	ENSP00000506636.1:n.*4093A>G
ENST00000681298.1:n.4589A>G
ENST00000681454.1:c.*5720A>G	ENSP00000505763.1:n.*5720A>G
ENST00000277541.6:c.6484A>G	ENSP00000277541.6:p.Ser2162Gly
NM_017617.3:c.6484A>G	NP_060087.3:p.Ser2162Gly
XM_011518717.1:c.5785A>G	XP_011517019.1:p.Ser1929Gly
NM_017617.5:c.6484A>G MANE Select	NP_060087.3:p.Ser2162Gly
XM_011518717.2:c.5761A>G	XP_011517019.2:p.Ser1921Gly