Canonical Allele Identifier: CA375631619

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391725T>A (hg19) ; chr9:g.136497273T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497273T>A , CM000671.2:g.136497273T>A	GRCh38
NC_000009.11:g.139391725T>A , CM000671.1:g.139391725T>A	GRCh37
NC_000009.10:g.138511546T>A	NCBI36
NG_007458.1:g.53514A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6466A>T MANE Select	ENSP00000498587.1:p.Lys2156Ter
ENST00000679595.1:c.*1506A>T	ENSP00000506241.1:n.*1506A>T
ENST00000679969.1:n.3062A>T
ENST00000680003.1:n.2798A>T
ENST00000680133.1:c.6352A>T	ENSP00000505319.1:p.Lys2118Ter
ENST00000680218.1:c.6346A>T	ENSP00000505339.1:p.Lys2116Ter
ENST00000680668.1:c.6352A>T	ENSP00000506336.1:p.Lys2118Ter
ENST00000680778.1:c.4063A>T	ENSP00000506033.1:p.Lys1355Ter
ENST00000680924.1:c.*3866A>T	ENSP00000506031.1:n.*3866A>T
ENST00000681135.1:c.*4075A>T	ENSP00000506636.1:n.*4075A>T
ENST00000681298.1:n.4571A>T
ENST00000681454.1:c.*5702A>T	ENSP00000505763.1:n.*5702A>T
ENST00000277541.6:c.6466A>T	ENSP00000277541.6:p.Lys2156Ter
NM_017617.3:c.6466A>T	NP_060087.3:p.Lys2156Ter
XM_011518717.1:c.5767A>T	XP_011517019.1:p.Lys1923Ter
NM_017617.5:c.6466A>T MANE Select	NP_060087.3:p.Lys2156Ter
XM_011518717.2:c.5743A>T	XP_011517019.2:p.Lys1915Ter