Canonical Allele Identifier: CA467738433

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842959494
• MyVariant Identifiers: chr9:g.139393574T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499122T>C , CM000671.2:g.136499122T>C	GRCh38
NC_000009.11:g.139393574T>C , CM000671.1:g.139393574T>C	GRCh37
NC_000009.10:g.138513395T>C	NCBI36
NG_007458.1:g.51665A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6072A>G MANE Select	ENSP00000498587.1:p.Val2024=
ENST00000679595.1:c.*1112A>G	ENSP00000506241.1:n.*1112A>G
ENST00000679969.1:n.2553A>G
ENST00000680003.1:n.2404A>G
ENST00000680133.1:c.5958A>G	ENSP00000505319.1:p.Val1986=
ENST00000680218.1:c.5952A>G	ENSP00000505339.1:p.Val1984=
ENST00000680668.1:c.5958A>G	ENSP00000506336.1:p.Val1986=
ENST00000680778.1:c.3669A>G	ENSP00000506033.1:p.Val1223=
ENST00000680924.1:c.*3472A>G	ENSP00000506031.1:n.*3472A>G
ENST00000681135.1:c.*3681A>G	ENSP00000506636.1:n.*3681A>G
ENST00000681298.1:n.4177A>G
ENST00000681454.1:c.*5308A>G	ENSP00000505763.1:n.*5308A>G
ENST00000277541.6:c.6072A>G	ENSP00000277541.6:p.Val2024=
NM_017617.3:c.6072A>G	NP_060087.3:p.Val2024=
XM_011518717.1:c.5373A>G	XP_011517019.1:p.Val1791=
NM_017617.5:c.6072A>G MANE Select	NP_060087.3:p.Val2024=
XM_011518717.2:c.5349A>G	XP_011517019.2:p.Val1783=