Canonical Allele Identifier: CA5340019

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 241158
• ClinVar RCV Id: RCV001170923 ; RCV001579505 ; RCV002270056 ; RCV003323470
• dbSNP Id: rs188357478
• ExAC: 9:139393426 G / A
• gnomAD v2: 9-139393426-G-A
• gnomAD v3: 9-136498974-G-A
• gnomAD v4: 9-136498974-G-A
• MyVariant Identifiers: chr9:g.139393426G>A (hg19) ; chr9:g.136498974G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498974G>A , CM000671.2:g.136498974G>A	GRCh38
NC_000009.11:g.139393426G>A , CM000671.1:g.139393426G>A	GRCh37
NC_000009.10:g.138513247G>A	NCBI36
NG_007458.1:g.51813C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651671.1:c.6105C>T MANE Select	ENSP00000498587.1:p.Ala2035=
ENST00000679595.1:c.*1145C>T	ENSP00000506241.1:n.*1145C>T
ENST00000679969.1:n.2701C>T
ENST00000680003.1:n.2437C>T
ENST00000680133.1:c.5991C>T	ENSP00000505319.1:p.Ala1997=
ENST00000680218.1:c.5985C>T	ENSP00000505339.1:p.Ala1995=
ENST00000680668.1:c.5991C>T	ENSP00000506336.1:p.Ala1997=
ENST00000680778.1:c.3702C>T	ENSP00000506033.1:p.Ala1234=
ENST00000680924.1:c.*3505C>T	ENSP00000506031.1:n.*3505C>T
ENST00000681135.1:c.*3714C>T	ENSP00000506636.1:n.*3714C>T
ENST00000681298.1:n.4210C>T
ENST00000681454.1:c.*5341C>T	ENSP00000505763.1:n.*5341C>T
ENST00000277541.6:c.6105C>T	ENSP00000277541.6:p.Ala2035=
NM_017617.3:c.6105C>T	NP_060087.3:p.Ala2035=
XM_011518717.1:c.5406C>T	XP_011517019.1:p.Ala1802=
NM_017617.5:c.6105C>T MANE Select	NP_060087.3:p.Ala2035=
XM_011518717.2:c.5382C>T	XP_011517019.2:p.Ala1794=