Canonical Allele Identifier: CA375644440

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336152
• MyVariant Identifiers: chr9:g.139399239G>A (hg19) ; chr9:g.136504787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504787G>A , CM000671.2:g.136504787G>A	GRCh38
NC_000009.11:g.139399239G>A , CM000671.1:g.139399239G>A	GRCh37
NC_000009.10:g.138519060G>A	NCBI36
NG_007458.1:g.46000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2711C>T
ENST00000651671.1:c.4904C>T MANE Select	ENSP00000498587.1:p.Ala1635Val
ENST00000679595.1:c.4904C>T	ENSP00000506241.1:p.Ala1635Val
ENST00000680133.1:c.4790C>T	ENSP00000505319.1:p.Ala1597Val
ENST00000680218.1:c.4784C>T	ENSP00000505339.1:p.Ala1595Val
ENST00000680668.1:c.4790C>T	ENSP00000506336.1:p.Ala1597Val
ENST00000680778.1:c.2501C>T	ENSP00000506033.1:p.Ala834Val
ENST00000680924.1:c.*2304C>T	ENSP00000506031.1:n.*2304C>T
ENST00000681135.1:c.*2513C>T	ENSP00000506636.1:n.*2513C>T
ENST00000681298.1:n.1717C>T
ENST00000681454.1:c.*4140C>T	ENSP00000505763.1:n.*4140C>T
ENST00000277541.6:c.4904C>T	ENSP00000277541.6:p.Ala1635Val
ENST00000494783.1:n.59C>T
NM_017617.3:c.4904C>T	NP_060087.3:p.Ala1635Val
XM_011518717.1:c.4205C>T	XP_011517019.1:p.Ala1402Val
NM_017617.5:c.4904C>T MANE Select	NP_060087.3:p.Ala1635Val
XM_011518717.2:c.4181C>T	XP_011517019.2:p.Ala1394Val