Canonical Allele Identifier: CA467832697

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1603473
• ClinVar RCV Id: RCV002142065
• dbSNP Id: rs772314400
• MyVariant Identifiers: chr9:g.139399277G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504825G>C , CM000671.2:g.136504825G>C	GRCh38
NC_000009.11:g.139399277G>C , CM000671.1:g.139399277G>C	GRCh37
NC_000009.10:g.138519098G>C	NCBI36
NG_007458.1:g.45962C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2673C>G
ENST00000651671.1:c.4866C>G MANE Select	ENSP00000498587.1:p.Arg1622=
ENST00000679595.1:c.4866C>G	ENSP00000506241.1:p.Arg1622=
ENST00000680133.1:c.4752C>G	ENSP00000505319.1:p.Arg1584=
ENST00000680218.1:c.4746C>G	ENSP00000505339.1:p.Arg1582=
ENST00000680668.1:c.4752C>G	ENSP00000506336.1:p.Arg1584=
ENST00000680778.1:c.2463C>G	ENSP00000506033.1:p.Arg821=
ENST00000680924.1:c.*2266C>G	ENSP00000506031.1:n.*2266C>G
ENST00000681135.1:c.*2475C>G	ENSP00000506636.1:n.*2475C>G
ENST00000681298.1:n.1679C>G
ENST00000681454.1:c.*4102C>G	ENSP00000505763.1:n.*4102C>G
ENST00000277541.6:c.4866C>G	ENSP00000277541.6:p.Arg1622=
ENST00000494783.1:n.21C>G
NM_017617.3:c.4866C>G	NP_060087.3:p.Arg1622=
XM_011518717.1:c.4167C>G	XP_011517019.1:p.Arg1389=
NM_017617.5:c.4866C>G MANE Select	NP_060087.3:p.Arg1622=
XM_011518717.2:c.4143C>G	XP_011517019.2:p.Arg1381=