Canonical Allele Identifier: CA2497029190
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136517621T= , CM000671.2:g.136517621T= GRCh38
NC_000009.11:g.139412073T= , CM000671.1:g.139412073T= GRCh37
NC_000009.10:g.138531894T= NCBI36
NG_007458.1:g.33166A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.1441+131A= MANE Select ENSP00000498587.1:n.1441+131A=
ENST00000679595.1:c.1441+131A= ENSP00000506241.1:n.1441+131A=
ENST00000680133.1:c.1441+131A= ENSP00000505319.1:n.1441+131A=
ENST00000680218.1:c.1441+131A= ENSP00000505339.1:n.1441+131A=
ENST00000680668.1:c.1441+131A= ENSP00000506336.1:n.1441+131A=
ENST00000680924.1:c.1441+131A= ENSP00000506031.1:n.1441+131A=
ENST00000681135.1:c.1441+131A= ENSP00000506636.1:n.1441+131A=
ENST00000681454.1:c.*677+131A= ENSP00000505763.1:n.*677+131A=
ENST00000277541.6:c.1441+131A= ENSP00000277541.6:n.1441+131A=
NM_017617.3:c.1441+131A= NP_060087.3:n.1441+131A=
XM_011518717.1:c.742+131A= XP_011517019.1:n.742+131A=
NM_017617.5:c.1441+131A= MANE Select NP_060087.3:n.1441+131A=
XM_011518717.2:c.718+131A= XP_011517019.2:n.718+131A=