Canonical Allele Identifier: CA375564345
Gene: NOTCH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136518145C>A , CM000671.2:g.136518145C>A GRCh38
NC_000009.11:g.139412597C>A , CM000671.1:g.139412597C>A GRCh37
NC_000009.10:g.138532418C>A NCBI36
NG_007458.1:g.32642G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651671.1:c.1247G>T MANE Select ENSP00000498587.1:p.Cys416Phe
ENST00000679595.1:c.1247G>T ENSP00000506241.1:p.Cys416Phe
ENST00000680133.1:c.1247G>T ENSP00000505319.1:p.Cys416Phe
ENST00000680218.1:c.1247G>T ENSP00000505339.1:p.Cys416Phe
ENST00000680668.1:c.1247G>T ENSP00000506336.1:p.Cys416Phe
ENST00000680924.1:c.1247G>T ENSP00000506031.1:p.Cys416Phe
ENST00000681135.1:c.1247G>T ENSP00000506636.1:p.Cys416Phe
ENST00000681454.1:c.*483G>T ENSP00000505763.1:n.*483G>T
ENST00000277541.6:c.1247G>T ENSP00000277541.6:p.Cys416Phe
NM_017617.3:c.1247G>T NP_060087.3:p.Cys416Phe
XM_011518717.1:c.548G>T XP_011517019.1:p.Cys183Phe
NM_017617.5:c.1247G>T MANE Select NP_060087.3:p.Cys416Phe
XM_011518717.2:c.524G>T XP_011517019.2:p.Cys175Phe