Canonical Allele Identifier: CA375631511

Gene: NOTCH1

Linked Data

• dbSNP Id: rs535160267
• MyVariant Identifiers: chr9:g.139391700T>A (hg19) ; chr9:g.136497248T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497248T>A , CM000671.2:g.136497248T>A	GRCh38
NC_000009.11:g.139391700T>A , CM000671.1:g.139391700T>A	GRCh37
NC_000009.10:g.138511521T>A	NCBI36
NG_007458.1:g.53539A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6491A>T MANE Select	ENSP00000498587.1:p.Lys2164Ile
ENST00000679595.1:c.*1531A>T	ENSP00000506241.1:n.*1531A>T
ENST00000679969.1:n.3087A>T
ENST00000680003.1:n.2823A>T
ENST00000680133.1:c.6377A>T	ENSP00000505319.1:p.Lys2126Ile
ENST00000680218.1:c.6371A>T	ENSP00000505339.1:p.Lys2124Ile
ENST00000680668.1:c.6377A>T	ENSP00000506336.1:p.Lys2126Ile
ENST00000680778.1:c.4088A>T	ENSP00000506033.1:p.Lys1363Ile
ENST00000680924.1:c.*3891A>T	ENSP00000506031.1:n.*3891A>T
ENST00000681135.1:c.*4100A>T	ENSP00000506636.1:n.*4100A>T
ENST00000681298.1:n.4596A>T
ENST00000681454.1:c.*5727A>T	ENSP00000505763.1:n.*5727A>T
ENST00000277541.6:c.6491A>T	ENSP00000277541.6:p.Lys2164Ile
NM_017617.3:c.6491A>T	NP_060087.3:p.Lys2164Ile
XM_011518717.1:c.5792A>T	XP_011517019.1:p.Lys1931Ile
NM_017617.5:c.6491A>T MANE Select	NP_060087.3:p.Lys2164Ile
XM_011518717.2:c.5768A>T	XP_011517019.2:p.Lys1923Ile