Canonical Allele Identifier: CA375631373
Gene: NOTCH1 HGNC NCBI

Linked Data

dbSNP Id: rs1197184303

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497207C>A , CM000671.2:g.136497207C>A GRCh38
NC_000009.11:g.139391659C>A , CM000671.1:g.139391659C>A GRCh37
NC_000009.10:g.138511480C>A NCBI36
NG_007458.1:g.53580G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.6532G>T MANE Select ENSP00000498587.1:p.Ala2178Ser
ENST00000679595.1:c.*1572G>T ENSP00000506241.1:n.*1572G>T
ENST00000679969.1:n.3128G>T
ENST00000680003.1:n.2864G>T
ENST00000680133.1:c.6418G>T ENSP00000505319.1:p.Ala2140Ser
ENST00000680218.1:c.6412G>T ENSP00000505339.1:p.Ala2138Ser
ENST00000680668.1:c.6418G>T ENSP00000506336.1:p.Ala2140Ser
ENST00000680778.1:c.4129G>T ENSP00000506033.1:p.Ala1377Ser
ENST00000680924.1:c.*3932G>T ENSP00000506031.1:n.*3932G>T
ENST00000681135.1:c.*4141G>T ENSP00000506636.1:n.*4141G>T
ENST00000681298.1:n.4637G>T
ENST00000681454.1:c.*5768G>T ENSP00000505763.1:n.*5768G>T
ENST00000277541.6:c.6532G>T ENSP00000277541.6:p.Ala2178Ser
NM_017617.3:c.6532G>T NP_060087.3:p.Ala2178Ser
XM_011518717.1:c.5833G>T XP_011517019.1:p.Ala1945Ser
NM_017617.5:c.6532G>T MANE Select NP_060087.3:p.Ala2178Ser
XM_011518717.2:c.5809G>T XP_011517019.2:p.Ala1937Ser