Canonical Allele Identifier: CA375631931
Gene: NOTCH1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.139391843G>T (hg19) chr9:g.136497391G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136497391G>T , CM000671.2:g.136497391G>T GRCh38
NC_000009.11:g.139391843G>T , CM000671.1:g.139391843G>T GRCh37
NC_000009.10:g.138511664G>T NCBI36
NG_007458.1:g.53396C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651671.1:c.6348C>A MANE Select ENSP00000498587.1:p.Tyr2116Ter
ENST00000679595.1:c.*1388C>A ENSP00000506241.1:n.*1388C>A
ENST00000679969.1:n.2944C>A
ENST00000680003.1:n.2680C>A
ENST00000680133.1:c.6234C>A ENSP00000505319.1:p.Tyr2078Ter
ENST00000680218.1:c.6228C>A ENSP00000505339.1:p.Tyr2076Ter
ENST00000680668.1:c.6234C>A ENSP00000506336.1:p.Tyr2078Ter
ENST00000680778.1:c.3945C>A ENSP00000506033.1:p.Tyr1315Ter
ENST00000680924.1:c.*3748C>A ENSP00000506031.1:n.*3748C>A
ENST00000681135.1:c.*3957C>A ENSP00000506636.1:n.*3957C>A
ENST00000681298.1:n.4453C>A
ENST00000681454.1:c.*5584C>A ENSP00000505763.1:n.*5584C>A
ENST00000277541.6:c.6348C>A ENSP00000277541.6:p.Tyr2116Ter
NM_017617.3:c.6348C>A NP_060087.3:p.Tyr2116Ter
XM_011518717.1:c.5649C>A XP_011517019.1:p.Tyr1883Ter
NM_017617.5:c.6348C>A MANE Select NP_060087.3:p.Tyr2116Ter
XM_011518717.2:c.5625C>A XP_011517019.2:p.Tyr1875Ter
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