Canonical Allele Identifier: CA5340507

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 241143
• ClinVar RCV Id: RCV000233482 ; RCV002327142
• dbSNP Id: rs369467132
• ExAC: 9:139399315 C / A
• gnomAD v2: 9-139399315-C-A
• gnomAD v3: 9-136504863-C-A
• gnomAD v4: 9-136504863-C-A
• MyVariant Identifiers: chr9:g.139399315C>A (hg19) ; chr9:g.136504863C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504863C>A , CM000671.2:g.136504863C>A	GRCh38
NC_000009.11:g.139399315C>A , CM000671.1:g.139399315C>A	GRCh37
NC_000009.10:g.138519136C>A	NCBI36
NG_007458.1:g.45924G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2635G>T
ENST00000651671.1:c.4828G>T MANE Select	ENSP00000498587.1:p.Ala1610Ser
ENST00000679595.1:c.4828G>T	ENSP00000506241.1:p.Ala1610Ser
ENST00000680133.1:c.4714G>T	ENSP00000505319.1:p.Ala1572Ser
ENST00000680218.1:c.4708G>T	ENSP00000505339.1:p.Ala1570Ser
ENST00000680668.1:c.4714G>T	ENSP00000506336.1:p.Ala1572Ser
ENST00000680778.1:c.2425G>T	ENSP00000506033.1:p.Ala809Ser
ENST00000680924.1:c.*2228G>T	ENSP00000506031.1:n.*2228G>T
ENST00000681135.1:c.*2437G>T	ENSP00000506636.1:n.*2437G>T
ENST00000681298.1:n.1641G>T
ENST00000681454.1:c.*4064G>T	ENSP00000505763.1:n.*4064G>T
ENST00000277541.6:c.4828G>T	ENSP00000277541.6:p.Ala1610Ser
NM_017617.3:c.4828G>T	NP_060087.3:p.Ala1610Ser
XM_011518717.1:c.4129G>T	XP_011517019.1:p.Ala1377Ser
NM_017617.5:c.4828G>T MANE Select	NP_060087.3:p.Ala1610Ser
XM_011518717.2:c.4105G>T	XP_011517019.2:p.Ala1369Ser