Canonical Allele Identifier: CA5340524

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1207713
• ClinVar RCV Id: RCV001575799 ; RCV001799107 ; RCV002271270 ; RCV002271269
• dbSNP Id: rs746431035
• ExAC: 9:139399401 G / A
• gnomAD v2: 9-139399401-G-A
• gnomAD v3: 9-136504949-G-A
• gnomAD v4: 9-136504949-G-A
• COSMIC: COSM4626392 ; COSM4626393
• MyVariant Identifiers: chr9:g.139399401G>A (hg19) ; chr9:g.136504949G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504949G>A , CM000671.2:g.136504949G>A	GRCh38
NC_000009.11:g.139399401G>A , CM000671.1:g.139399401G>A	GRCh37
NC_000009.10:g.138519222G>A	NCBI36
NG_007458.1:g.45838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2549C>T
ENST00000651671.1:c.4742C>T MANE Select	ENSP00000498587.1:p.Pro1581Leu
ENST00000679595.1:c.4742C>T	ENSP00000506241.1:p.Pro1581Leu
ENST00000680133.1:c.4628C>T	ENSP00000505319.1:p.Pro1543Leu
ENST00000680218.1:c.4622C>T	ENSP00000505339.1:p.Pro1541Leu
ENST00000680668.1:c.4628C>T	ENSP00000506336.1:p.Pro1543Leu
ENST00000680778.1:c.2339C>T	ENSP00000506033.1:p.Pro780Leu
ENST00000680924.1:c.*2142C>T	ENSP00000506031.1:n.*2142C>T
ENST00000681135.1:c.*2351C>T	ENSP00000506636.1:n.*2351C>T
ENST00000681298.1:n.1555C>T
ENST00000681454.1:c.*3978C>T	ENSP00000505763.1:n.*3978C>T
ENST00000277541.6:c.4742C>T	ENSP00000277541.6:p.Pro1581Leu
NM_017617.3:c.4742C>T	NP_060087.3:p.Pro1581Leu
XM_011518717.1:c.4043C>T	XP_011517019.1:p.Pro1348Leu
NM_017617.5:c.4742C>T MANE Select	NP_060087.3:p.Pro1581Leu
XM_011518717.2:c.4019C>T	XP_011517019.2:p.Pro1340Leu