Canonical Allele Identifier: CA375631188

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391612G>T (hg19) ; chr9:g.136497160G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497160G>T , CM000671.2:g.136497160G>T	GRCh38
NC_000009.11:g.139391612G>T , CM000671.1:g.139391612G>T	GRCh37
NC_000009.10:g.138511433G>T	NCBI36
NG_007458.1:g.53627C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6579C>A MANE Select	ENSP00000498587.1:p.Ser2193Arg
ENST00000679595.1:c.*1619C>A	ENSP00000506241.1:n.*1619C>A
ENST00000679969.1:n.3175C>A
ENST00000680003.1:n.2911C>A
ENST00000680133.1:c.6465C>A	ENSP00000505319.1:p.Ser2155Arg
ENST00000680218.1:c.6459C>A	ENSP00000505339.1:p.Ser2153Arg
ENST00000680668.1:c.6465C>A	ENSP00000506336.1:p.Ser2155Arg
ENST00000680778.1:c.4176C>A	ENSP00000506033.1:p.Ser1392Arg
ENST00000680924.1:c.*3979C>A	ENSP00000506031.1:n.*3979C>A
ENST00000681135.1:c.*4188C>A	ENSP00000506636.1:n.*4188C>A
ENST00000681298.1:n.4684C>A
ENST00000681454.1:c.*5815C>A	ENSP00000505763.1:n.*5815C>A
ENST00000277541.6:c.6579C>A	ENSP00000277541.6:p.Ser2193Arg
NM_017617.3:c.6579C>A	NP_060087.3:p.Ser2193Arg
XM_011518717.1:c.5880C>A	XP_011517019.1:p.Ser1960Arg
NM_017617.5:c.6579C>A MANE Select	NP_060087.3:p.Ser2193Arg
XM_011518717.2:c.5856C>A	XP_011517019.2:p.Ser1952Arg