Canonical Allele Identifier: CA375644411

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336128
• gnomAD v4: 9-136504781-C-A
• COSMIC: COSM99673 ; COSM99674
• MyVariant Identifiers: chr9:g.139399233C>A (hg19) ; chr9:g.136504781C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504781C>A , CM000671.2:g.136504781C>A	GRCh38
NC_000009.11:g.139399233C>A , CM000671.1:g.139399233C>A	GRCh37
NC_000009.10:g.138519054C>A	NCBI36
NG_007458.1:g.46006G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2717G>T
ENST00000651671.1:c.4910G>T MANE Select	ENSP00000498587.1:p.Gly1637Val
ENST00000679595.1:c.4910G>T	ENSP00000506241.1:p.Gly1637Val
ENST00000680133.1:c.4796G>T	ENSP00000505319.1:p.Gly1599Val
ENST00000680218.1:c.4790G>T	ENSP00000505339.1:p.Gly1597Val
ENST00000680668.1:c.4796G>T	ENSP00000506336.1:p.Gly1599Val
ENST00000680778.1:c.2507G>T	ENSP00000506033.1:p.Gly836Val
ENST00000680924.1:c.*2310G>T	ENSP00000506031.1:n.*2310G>T
ENST00000681135.1:c.*2519G>T	ENSP00000506636.1:n.*2519G>T
ENST00000681298.1:n.1723G>T
ENST00000681454.1:c.*4146G>T	ENSP00000505763.1:n.*4146G>T
ENST00000277541.6:c.4910G>T	ENSP00000277541.6:p.Gly1637Val
ENST00000494783.1:n.65G>T
NM_017617.3:c.4910G>T	NP_060087.3:p.Gly1637Val
XM_011518717.1:c.4211G>T	XP_011517019.1:p.Gly1404Val
NM_017617.5:c.4910G>T MANE Select	NP_060087.3:p.Gly1637Val
XM_011518717.2:c.4187G>T	XP_011517019.2:p.Gly1396Val