Canonical Allele Identifier: CA467832200

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317911
• gnomAD v4: 9-136497160-G-A
• MyVariant Identifiers: chr9:g.139391612G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6579C>T MANE Select	ENSP00000498587.1:p.Ser2193=
ENST00000679595.1:c.*1619C>T	ENSP00000506241.1:n.*1619C>T
ENST00000679969.1:n.3175C>T
ENST00000680003.1:n.2911C>T
ENST00000680133.1:c.6465C>T	ENSP00000505319.1:p.Ser2155=
ENST00000680218.1:c.6459C>T	ENSP00000505339.1:p.Ser2153=
ENST00000680668.1:c.6465C>T	ENSP00000506336.1:p.Ser2155=
ENST00000680778.1:c.4176C>T	ENSP00000506033.1:p.Ser1392=
ENST00000680924.1:c.*3979C>T	ENSP00000506031.1:n.*3979C>T
ENST00000681135.1:c.*4188C>T	ENSP00000506636.1:n.*4188C>T
ENST00000681298.1:n.4684C>T
ENST00000681454.1:c.*5815C>T	ENSP00000505763.1:n.*5815C>T
ENST00000277541.6:c.6579C>T	ENSP00000277541.6:p.Ser2193=
NM_017617.3:c.6579C>T	NP_060087.3:p.Ser2193=
XM_011518717.1:c.5880C>T	XP_011517019.1:p.Ser1960=
NM_017617.5:c.6579C>T MANE Select	NP_060087.3:p.Ser2193=
XM_011518717.2:c.5856C>T	XP_011517019.2:p.Ser1952=