Canonical Allele Identifier: CA467832701

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336364
• gnomAD v4: 9-136504828-G-A
• MyVariant Identifiers: chr9:g.139399280G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504828G>A , CM000671.2:g.136504828G>A	GRCh38
NC_000009.11:g.139399280G>A , CM000671.1:g.139399280G>A	GRCh37
NC_000009.10:g.138519101G>A	NCBI36
NG_007458.1:g.45959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2670C>T
ENST00000651671.1:c.4863C>T MANE Select	ENSP00000498587.1:p.Gly1621=
ENST00000679595.1:c.4863C>T	ENSP00000506241.1:p.Gly1621=
ENST00000680133.1:c.4749C>T	ENSP00000505319.1:p.Gly1583=
ENST00000680218.1:c.4743C>T	ENSP00000505339.1:p.Gly1581=
ENST00000680668.1:c.4749C>T	ENSP00000506336.1:p.Gly1583=
ENST00000680778.1:c.2460C>T	ENSP00000506033.1:p.Gly820=
ENST00000680924.1:c.*2263C>T	ENSP00000506031.1:n.*2263C>T
ENST00000681135.1:c.*2472C>T	ENSP00000506636.1:n.*2472C>T
ENST00000681298.1:n.1676C>T
ENST00000681454.1:c.*4099C>T	ENSP00000505763.1:n.*4099C>T
ENST00000277541.6:c.4863C>T	ENSP00000277541.6:p.Gly1621=
ENST00000494783.1:n.18C>T
NM_017617.3:c.4863C>T	NP_060087.3:p.Gly1621=
XM_011518717.1:c.4164C>T	XP_011517019.1:p.Gly1388=
NM_017617.5:c.4863C>T MANE Select	NP_060087.3:p.Gly1621=
XM_011518717.2:c.4140C>T	XP_011517019.2:p.Gly1380=