Canonical Allele Identifier: CA375644840

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1324346884
• gnomAD v4: 9-136504872-T-C
• MyVariant Identifiers: chr9:g.139399324T>C (hg19) ; chr9:g.136504872T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504872T>C , CM000671.2:g.136504872T>C	GRCh38
NC_000009.11:g.139399324T>C , CM000671.1:g.139399324T>C	GRCh37
NC_000009.10:g.138519145T>C	NCBI36
NG_007458.1:g.45915A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2626A>G
ENST00000651671.1:c.4819A>G MANE Select	ENSP00000498587.1:p.Lys1607Glu
ENST00000679595.1:c.4819A>G	ENSP00000506241.1:p.Lys1607Glu
ENST00000680133.1:c.4705A>G	ENSP00000505319.1:p.Lys1569Glu
ENST00000680218.1:c.4699A>G	ENSP00000505339.1:p.Lys1567Glu
ENST00000680668.1:c.4705A>G	ENSP00000506336.1:p.Lys1569Glu
ENST00000680778.1:c.2416A>G	ENSP00000506033.1:p.Lys806Glu
ENST00000680924.1:c.*2219A>G	ENSP00000506031.1:n.*2219A>G
ENST00000681135.1:c.*2428A>G	ENSP00000506636.1:n.*2428A>G
ENST00000681298.1:n.1632A>G
ENST00000681454.1:c.*4055A>G	ENSP00000505763.1:n.*4055A>G
ENST00000277541.6:c.4819A>G	ENSP00000277541.6:p.Lys1607Glu
NM_017617.3:c.4819A>G	NP_060087.3:p.Lys1607Glu
XM_011518717.1:c.4120A>G	XP_011517019.1:p.Lys1374Glu
NM_017617.5:c.4819A>G MANE Select	NP_060087.3:p.Lys1607Glu
XM_011518717.2:c.4096A>G	XP_011517019.2:p.Lys1366Glu