Canonical Allele Identifier: CA16043671
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374271
ClinVar RCV Id: RCV000414999
dbSNP Id: rs1057518661
MyVariant Identifiers: chr9:g.139391843G>C (hg19) chr9:g.136497391G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

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