Canonical Allele Identifier: CA375631542

Gene: NOTCH1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6484A>C MANE Select	ENSP00000498587.1:p.Ser2162Arg
ENST00000679595.1:c.*1524A>C	ENSP00000506241.1:n.*1524A>C
ENST00000679969.1:n.3080A>C
ENST00000680003.1:n.2816A>C
ENST00000680133.1:c.6370A>C	ENSP00000505319.1:p.Ser2124Arg
ENST00000680218.1:c.6364A>C	ENSP00000505339.1:p.Ser2122Arg
ENST00000680668.1:c.6370A>C	ENSP00000506336.1:p.Ser2124Arg
ENST00000680778.1:c.4081A>C	ENSP00000506033.1:p.Ser1361Arg
ENST00000680924.1:c.*3884A>C	ENSP00000506031.1:n.*3884A>C
ENST00000681135.1:c.*4093A>C	ENSP00000506636.1:n.*4093A>C
ENST00000681298.1:n.4589A>C
ENST00000681454.1:c.*5720A>C	ENSP00000505763.1:n.*5720A>C
ENST00000277541.6:c.6484A>C	ENSP00000277541.6:p.Ser2162Arg
NM_017617.3:c.6484A>C	NP_060087.3:p.Ser2162Arg
XM_011518717.1:c.5785A>C	XP_011517019.1:p.Ser1929Arg
NM_017617.5:c.6484A>C MANE Select	NP_060087.3:p.Ser2162Arg
XM_011518717.2:c.5761A>C	XP_011517019.2:p.Ser1921Arg