Canonical Allele Identifier: CA467738288

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393435C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498983C>A , CM000671.2:g.136498983C>A	GRCh38
NC_000009.11:g.139393435C>A , CM000671.1:g.139393435C>A	GRCh37
NC_000009.10:g.138513256C>A	NCBI36
NG_007458.1:g.51804G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6096G>T MANE Select	ENSP00000498587.1:p.Leu2032=
ENST00000679595.1:c.*1136G>T	ENSP00000506241.1:n.*1136G>T
ENST00000679969.1:n.2692G>T
ENST00000680003.1:n.2428G>T
ENST00000680133.1:c.5982G>T	ENSP00000505319.1:p.Leu1994=
ENST00000680218.1:c.5976G>T	ENSP00000505339.1:p.Leu1992=
ENST00000680668.1:c.5982G>T	ENSP00000506336.1:p.Leu1994=
ENST00000680778.1:c.3693G>T	ENSP00000506033.1:p.Leu1231=
ENST00000680924.1:c.*3496G>T	ENSP00000506031.1:n.*3496G>T
ENST00000681135.1:c.*3705G>T	ENSP00000506636.1:n.*3705G>T
ENST00000681298.1:n.4201G>T
ENST00000681454.1:c.*5332G>T	ENSP00000505763.1:n.*5332G>T
ENST00000277541.6:c.6096G>T	ENSP00000277541.6:p.Leu2032=
NM_017617.3:c.6096G>T	NP_060087.3:p.Leu2032=
XM_011518717.1:c.5397G>T	XP_011517019.1:p.Leu1799=
NM_017617.5:c.6096G>T MANE Select	NP_060087.3:p.Leu2032=
XM_011518717.2:c.5373G>T	XP_011517019.2:p.Leu1791=