Canonical Allele Identifier: CA375634218

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133322474
• gnomAD v4: 9-136499112-C-T
• MyVariant Identifiers: chr9:g.139393564C>T (hg19) ; chr9:g.136499112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499112C>T , CM000671.2:g.136499112C>T	GRCh38
NC_000009.11:g.139393564C>T , CM000671.1:g.139393564C>T	GRCh37
NC_000009.10:g.138513385C>T	NCBI36
NG_007458.1:g.51675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6082G>A MANE Select	ENSP00000498587.1:p.Gly2028Ser
ENST00000679595.1:c.*1122G>A	ENSP00000506241.1:n.*1122G>A
ENST00000679969.1:n.2563G>A
ENST00000680003.1:n.2414G>A
ENST00000680133.1:c.5968G>A	ENSP00000505319.1:p.Gly1990Ser
ENST00000680218.1:c.5962G>A	ENSP00000505339.1:p.Gly1988Ser
ENST00000680668.1:c.5968G>A	ENSP00000506336.1:p.Gly1990Ser
ENST00000680778.1:c.3679G>A	ENSP00000506033.1:p.Gly1227Ser
ENST00000680924.1:c.*3482G>A	ENSP00000506031.1:n.*3482G>A
ENST00000681135.1:c.*3691G>A	ENSP00000506636.1:n.*3691G>A
ENST00000681298.1:n.4187G>A
ENST00000681454.1:c.*5318G>A	ENSP00000505763.1:n.*5318G>A
ENST00000277541.6:c.6082G>A	ENSP00000277541.6:p.Gly2028Ser
NM_017617.3:c.6082G>A	NP_060087.3:p.Gly2028Ser
XM_011518717.1:c.5383G>A	XP_011517019.1:p.Gly1795Ser
NM_017617.5:c.6082G>A MANE Select	NP_060087.3:p.Gly2028Ser
XM_011518717.2:c.5359G>A	XP_011517019.2:p.Gly1787Ser