Canonical Allele Identifier: CA467738422

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1190253357
• gnomAD v2: 9-139393571-A-G
• gnomAD v3: 9-136499119-A-G
• gnomAD v4: 9-136499119-A-G
• MyVariant Identifiers: chr9:g.139393571A>G (hg19) ; chr9:g.136499119A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499119A>G , CM000671.2:g.136499119A>G	GRCh38
NC_000009.11:g.139393571A>G , CM000671.1:g.139393571A>G	GRCh37
NC_000009.10:g.138513392A>G	NCBI36
NG_007458.1:g.51668T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6075T>C MANE Select	ENSP00000498587.1:p.Asp2025=
ENST00000679595.1:c.*1115T>C	ENSP00000506241.1:n.*1115T>C
ENST00000679969.1:n.2556T>C
ENST00000680003.1:n.2407T>C
ENST00000680133.1:c.5961T>C	ENSP00000505319.1:p.Asp1987=
ENST00000680218.1:c.5955T>C	ENSP00000505339.1:p.Asp1985=
ENST00000680668.1:c.5961T>C	ENSP00000506336.1:p.Asp1987=
ENST00000680778.1:c.3672T>C	ENSP00000506033.1:p.Asp1224=
ENST00000680924.1:c.*3475T>C	ENSP00000506031.1:n.*3475T>C
ENST00000681135.1:c.*3684T>C	ENSP00000506636.1:n.*3684T>C
ENST00000681298.1:n.4180T>C
ENST00000681454.1:c.*5311T>C	ENSP00000505763.1:n.*5311T>C
ENST00000277541.6:c.6075T>C	ENSP00000277541.6:p.Asp2025=
NM_017617.3:c.6075T>C	NP_060087.3:p.Asp2025=
XM_011518717.1:c.5376T>C	XP_011517019.1:p.Asp1792=
NM_017617.5:c.6075T>C MANE Select	NP_060087.3:p.Asp2025=
XM_011518717.2:c.5352T>C	XP_011517019.2:p.Asp1784=