Canonical Allele Identifier: CA375644262

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1744336
• ClinVar RCV Id: RCV002342737
• MyVariant Identifiers: chr9:g.139399192A>C (hg19) ; chr9:g.136504740A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504740A>C , CM000671.2:g.136504740A>C	GRCh38
NC_000009.11:g.139399192A>C , CM000671.1:g.139399192A>C	GRCh37
NC_000009.10:g.138519013A>C	NCBI36
NG_007458.1:g.46047T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2758T>G
ENST00000651671.1:c.4951T>G MANE Select	ENSP00000498587.1:p.Ser1651Ala
ENST00000679595.1:c.4951T>G	ENSP00000506241.1:p.Ser1651Ala
ENST00000680133.1:c.4837T>G	ENSP00000505319.1:p.Ser1613Ala
ENST00000680218.1:c.4831T>G	ENSP00000505339.1:p.Ser1611Ala
ENST00000680668.1:c.4837T>G	ENSP00000506336.1:p.Ser1613Ala
ENST00000680778.1:c.2548T>G	ENSP00000506033.1:p.Ser850Ala
ENST00000680924.1:c.*2351T>G	ENSP00000506031.1:n.*2351T>G
ENST00000681135.1:c.*2560T>G	ENSP00000506636.1:n.*2560T>G
ENST00000681298.1:n.1764T>G
ENST00000681454.1:c.*4187T>G	ENSP00000505763.1:n.*4187T>G
ENST00000277541.6:c.4951T>G	ENSP00000277541.6:p.Ser1651Ala
ENST00000494783.1:n.106T>G
NM_017617.3:c.4951T>G	NP_060087.3:p.Ser1651Ala
XM_011518717.1:c.4252T>G	XP_011517019.1:p.Ser1418Ala
NM_017617.5:c.4951T>G MANE Select	NP_060087.3:p.Ser1651Ala
XM_011518717.2:c.4228T>G	XP_011517019.2:p.Ser1410Ala