Canonical Allele Identifier: CA467738458

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393583G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499131G>T , CM000671.2:g.136499131G>T	GRCh38
NC_000009.11:g.139393583G>T , CM000671.1:g.139393583G>T	GRCh37
NC_000009.10:g.138513404G>T	NCBI36
NG_007458.1:g.51656C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6063C>A MANE Select	ENSP00000498587.1:p.Val2021=
ENST00000679595.1:c.*1103C>A	ENSP00000506241.1:n.*1103C>A
ENST00000679969.1:n.2544C>A
ENST00000680003.1:n.2395C>A
ENST00000680133.1:c.5949C>A	ENSP00000505319.1:p.Val1983=
ENST00000680218.1:c.5943C>A	ENSP00000505339.1:p.Val1981=
ENST00000680668.1:c.5949C>A	ENSP00000506336.1:p.Val1983=
ENST00000680778.1:c.3660C>A	ENSP00000506033.1:p.Val1220=
ENST00000680924.1:c.*3463C>A	ENSP00000506031.1:n.*3463C>A
ENST00000681135.1:c.*3672C>A	ENSP00000506636.1:n.*3672C>A
ENST00000681298.1:n.4168C>A
ENST00000681454.1:c.*5299C>A	ENSP00000505763.1:n.*5299C>A
ENST00000277541.6:c.6063C>A	ENSP00000277541.6:p.Val2021=
NM_017617.3:c.6063C>A	NP_060087.3:p.Val2021=
XM_011518717.1:c.5364C>A	XP_011517019.1:p.Val1788=
NM_017617.5:c.6063C>A MANE Select	NP_060087.3:p.Val2021=
XM_011518717.2:c.5340C>A	XP_011517019.2:p.Val1780=