Canonical Allele Identifier: CA467738719

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133323160
• MyVariant Identifiers: chr9:g.139393691G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499239G>C , CM000671.2:g.136499239G>C	GRCh38
NC_000009.11:g.139393691G>C , CM000671.1:g.139393691G>C	GRCh37
NC_000009.10:g.138513512G>C	NCBI36
NG_007458.1:g.51548C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000651671.1:c.5955C>G MANE Select	ENSP00000498587.1:p.Ala1985=
ENST00000679595.1:c.*995C>G	ENSP00000506241.1:n.*995C>G
ENST00000679969.1:n.2436C>G
ENST00000680003.1:n.2287C>G
ENST00000680133.1:c.5841C>G	ENSP00000505319.1:p.Ala1947=
ENST00000680218.1:c.5835C>G	ENSP00000505339.1:p.Ala1945=
ENST00000680668.1:c.5841C>G	ENSP00000506336.1:p.Ala1947=
ENST00000680778.1:c.3552C>G	ENSP00000506033.1:p.Ala1184=
ENST00000680924.1:c.*3355C>G	ENSP00000506031.1:n.*3355C>G
ENST00000681135.1:c.*3564C>G	ENSP00000506636.1:n.*3564C>G
ENST00000681298.1:n.4060C>G
ENST00000681454.1:c.*5191C>G	ENSP00000505763.1:n.*5191C>G
ENST00000277541.6:c.5955C>G	ENSP00000277541.6:p.Ala1985=
NM_017617.3:c.5955C>G	NP_060087.3:p.Ala1985=
XM_011518717.1:c.5256C>G	XP_011517019.1:p.Ala1752=
NM_017617.5:c.5955C>G MANE Select	NP_060087.3:p.Ala1985=
XM_011518717.2:c.5232C>G	XP_011517019.2:p.Ala1744=