Canonical Allele Identifier: CA467741903

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335644
• gnomAD v4: 9-136504678-G-A
• COSMIC: COSM5609578 ; COSM5609579
• MyVariant Identifiers: chr9:g.139399130G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504678G>A , CM000671.2:g.136504678G>A	GRCh38
NC_000009.11:g.139399130G>A , CM000671.1:g.139399130G>A	GRCh37
NC_000009.10:g.138518951G>A	NCBI36
NG_007458.1:g.46109C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2820C>T
ENST00000651671.1:c.5013C>T MANE Select	ENSP00000498587.1:p.Val1671=
ENST00000679595.1:c.5013C>T	ENSP00000506241.1:p.Val1671=
ENST00000680133.1:c.4899C>T	ENSP00000505319.1:p.Val1633=
ENST00000680218.1:c.4893C>T	ENSP00000505339.1:p.Val1631=
ENST00000680668.1:c.4899C>T	ENSP00000506336.1:p.Val1633=
ENST00000680778.1:c.2610C>T	ENSP00000506033.1:p.Val870=
ENST00000680924.1:c.*2413C>T	ENSP00000506031.1:n.*2413C>T
ENST00000681135.1:c.*2622C>T	ENSP00000506636.1:n.*2622C>T
ENST00000681298.1:n.1826C>T
ENST00000681454.1:c.*4249C>T	ENSP00000505763.1:n.*4249C>T
ENST00000277541.6:c.5013C>T	ENSP00000277541.6:p.Val1671=
ENST00000494783.1:n.168C>T
NM_017617.3:c.5013C>T	NP_060087.3:p.Val1671=
XM_011518717.1:c.4314C>T	XP_011517019.1:p.Val1438=
NM_017617.5:c.5013C>T MANE Select	NP_060087.3:p.Val1671=
XM_011518717.2:c.4290C>T	XP_011517019.2:p.Val1430=