Canonical Allele Identifier: CA467832968

Gene: NOTCH1

Linked Data

• dbSNP Id: rs200462746
• MyVariant Identifiers: chr9:g.139399445G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504993G>C , CM000671.2:g.136504993G>C	GRCh38
NC_000009.11:g.139399445G>C , CM000671.1:g.139399445G>C	GRCh37
NC_000009.10:g.138519266G>C	NCBI36
NG_007458.1:g.45794C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2505C>G
ENST00000651671.1:c.4698C>G MANE Select	ENSP00000498587.1:p.Pro1566=
ENST00000679595.1:c.4698C>G	ENSP00000506241.1:p.Pro1566=
ENST00000680133.1:c.4584C>G	ENSP00000505319.1:p.Pro1528=
ENST00000680218.1:c.4578C>G	ENSP00000505339.1:p.Pro1526=
ENST00000680668.1:c.4584C>G	ENSP00000506336.1:p.Pro1528=
ENST00000680778.1:c.2295C>G	ENSP00000506033.1:p.Pro765=
ENST00000680924.1:c.*2098C>G	ENSP00000506031.1:n.*2098C>G
ENST00000681135.1:c.*2307C>G	ENSP00000506636.1:n.*2307C>G
ENST00000681298.1:n.1511C>G
ENST00000681454.1:c.*3934C>G	ENSP00000505763.1:n.*3934C>G
ENST00000277541.6:c.4698C>G	ENSP00000277541.6:p.Pro1566=
NM_017617.3:c.4698C>G	NP_060087.3:p.Pro1566=
XM_011518717.1:c.3999C>G	XP_011517019.1:p.Pro1333=
NM_017617.5:c.4698C>G MANE Select	NP_060087.3:p.Pro1566=
XM_011518717.2:c.3975C>G	XP_011517019.2:p.Pro1325=