Canonical Allele Identifier: CA375644908
Gene: NOTCH1 HGNC NCBI

Linked Data

dbSNP Id: rs1470867224

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504887T>C , CM000671.2:g.136504887T>C GRCh38
NC_000009.11:g.139399339T>C , CM000671.1:g.139399339T>C GRCh37
NC_000009.10:g.138519160T>C NCBI36
NG_007458.1:g.45900A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645828.1:n.2611A>G
ENST00000651671.1:c.4804A>G MANE Select ENSP00000498587.1:p.Thr1602Ala
ENST00000679595.1:c.4804A>G ENSP00000506241.1:p.Thr1602Ala
ENST00000680133.1:c.4690A>G ENSP00000505319.1:p.Thr1564Ala
ENST00000680218.1:c.4684A>G ENSP00000505339.1:p.Thr1562Ala
ENST00000680668.1:c.4690A>G ENSP00000506336.1:p.Thr1564Ala
ENST00000680778.1:c.2401A>G ENSP00000506033.1:p.Thr801Ala
ENST00000680924.1:c.*2204A>G ENSP00000506031.1:n.*2204A>G
ENST00000681135.1:c.*2413A>G ENSP00000506636.1:n.*2413A>G
ENST00000681298.1:n.1617A>G
ENST00000681454.1:c.*4040A>G ENSP00000505763.1:n.*4040A>G
ENST00000277541.6:c.4804A>G ENSP00000277541.6:p.Thr1602Ala
NM_017617.3:c.4804A>G NP_060087.3:p.Thr1602Ala
XM_011518717.1:c.4105A>G XP_011517019.1:p.Thr1369Ala
NM_017617.5:c.4804A>G MANE Select NP_060087.3:p.Thr1602Ala
XM_011518717.2:c.4081A>G XP_011517019.2:p.Thr1361Ala