Canonical Allele Identifier: CA375645116

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 839707
• ClinVar RCV Id: RCV001041526
• dbSNP Id: rs1490218456
• MyVariant Identifiers: chr9:g.139399378A>G (hg19) ; chr9:g.136504926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504926A>G , CM000671.2:g.136504926A>G	GRCh38
NC_000009.11:g.139399378A>G , CM000671.1:g.139399378A>G	GRCh37
NC_000009.10:g.138519199A>G	NCBI36
NG_007458.1:g.45861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2572T>C
ENST00000651671.1:c.4765T>C MANE Select	ENSP00000498587.1:p.Ser1589Pro
ENST00000679595.1:c.4765T>C	ENSP00000506241.1:p.Ser1589Pro
ENST00000680133.1:c.4651T>C	ENSP00000505319.1:p.Ser1551Pro
ENST00000680218.1:c.4645T>C	ENSP00000505339.1:p.Ser1549Pro
ENST00000680668.1:c.4651T>C	ENSP00000506336.1:p.Ser1551Pro
ENST00000680778.1:c.2362T>C	ENSP00000506033.1:p.Ser788Pro
ENST00000680924.1:c.*2165T>C	ENSP00000506031.1:n.*2165T>C
ENST00000681135.1:c.*2374T>C	ENSP00000506636.1:n.*2374T>C
ENST00000681298.1:n.1578T>C
ENST00000681454.1:c.*4001T>C	ENSP00000505763.1:n.*4001T>C
ENST00000277541.6:c.4765T>C	ENSP00000277541.6:p.Ser1589Pro
NM_017617.3:c.4765T>C	NP_060087.3:p.Ser1589Pro
XM_011518717.1:c.4066T>C	XP_011517019.1:p.Ser1356Pro
NM_017617.5:c.4765T>C MANE Select	NP_060087.3:p.Ser1589Pro
XM_011518717.2:c.4042T>C	XP_011517019.2:p.Ser1348Pro