Canonical Allele Identifier: CA16042770

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 373248
• ClinVar RCV Id: RCV002270239 ; RCV002429340
• dbSNP Id: rs202144877
• gnomAD v2: 9-139405690-G-C
• gnomAD v4: 9-136511238-G-C
• MyVariant Identifiers: chr9:g.139405690G>C (hg19) ; chr9:g.136511238G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511238G>C , CM000671.2:g.136511238G>C	GRCh38
NC_000009.11:g.139405690G>C , CM000671.1:g.139405690G>C	GRCh37
NC_000009.10:g.138525511G>C	NCBI36
NG_007458.1:g.39549C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.308C>G
ENST00000646957.2:n.124C>G
ENST00000651671.1:c.2501C>G MANE Select	ENSP00000498587.1:p.Ala834Gly
ENST00000679595.1:c.2501C>G	ENSP00000506241.1:p.Ala834Gly
ENST00000680133.1:c.2387C>G	ENSP00000505319.1:p.Ala796Gly
ENST00000680218.1:c.2501C>G	ENSP00000505339.1:p.Ala834Gly
ENST00000680668.1:c.2387C>G	ENSP00000506336.1:p.Ala796Gly
ENST00000680778.1:c.98C>G	ENSP00000506033.1:p.Ala33Gly
ENST00000680924.1:c.2501C>G	ENSP00000506031.1:p.Ala834Gly
ENST00000681135.1:c.*110C>G	ENSP00000506636.1:n.*110C>G
ENST00000681454.1:c.*1737C>G	ENSP00000505763.1:n.*1737C>G
ENST00000277541.6:c.2501C>G	ENSP00000277541.6:p.Ala834Gly
NM_017617.3:c.2501C>G	NP_060087.3:p.Ala834Gly
XM_011518717.1:c.1802C>G	XP_011517019.1:p.Ala601Gly
NM_017617.5:c.2501C>G MANE Select	NP_060087.3:p.Ala834Gly
XM_011518717.2:c.1778C>G	XP_011517019.2:p.Ala593Gly