Canonical Allele Identifier: CA375634379

Gene: NOTCH1

Linked Data

• dbSNP Id: rs769436618
• MyVariant Identifiers: chr9:g.139393603T>A (hg19) ; chr9:g.136499151T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499151T>A , CM000671.2:g.136499151T>A	GRCh38
NC_000009.11:g.139393603T>A , CM000671.1:g.139393603T>A	GRCh37
NC_000009.10:g.138513424T>A	NCBI36
NG_007458.1:g.51636A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6043A>T MANE Select	ENSP00000498587.1:p.Ile2015Phe
ENST00000679595.1:c.*1083A>T	ENSP00000506241.1:n.*1083A>T
ENST00000679969.1:n.2524A>T
ENST00000680003.1:n.2375A>T
ENST00000680133.1:c.5929A>T	ENSP00000505319.1:p.Ile1977Phe
ENST00000680218.1:c.5923A>T	ENSP00000505339.1:p.Ile1975Phe
ENST00000680668.1:c.5929A>T	ENSP00000506336.1:p.Ile1977Phe
ENST00000680778.1:c.3640A>T	ENSP00000506033.1:p.Ile1214Phe
ENST00000680924.1:c.*3443A>T	ENSP00000506031.1:n.*3443A>T
ENST00000681135.1:c.*3652A>T	ENSP00000506636.1:n.*3652A>T
ENST00000681298.1:n.4148A>T
ENST00000681454.1:c.*5279A>T	ENSP00000505763.1:n.*5279A>T
ENST00000277541.6:c.6043A>T	ENSP00000277541.6:p.Ile2015Phe
NM_017617.3:c.6043A>T	NP_060087.3:p.Ile2015Phe
XM_011518717.1:c.5344A>T	XP_011517019.1:p.Ile1782Phe
NM_017617.5:c.6043A>T MANE Select	NP_060087.3:p.Ile2015Phe
XM_011518717.2:c.5320A>T	XP_011517019.2:p.Ile1774Phe