Canonical Allele Identifier: CA1087512159
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1789726580
gnomAD v3: 6-32220926-T-A
gnomAD v4: 6-32220926-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220926T>A , CM000668.2:g.32220926T>A GRCh38
NC_000006.11:g.32188703T>A , CM000668.1:g.32188703T>A GRCh37
NC_000006.10:g.32296681T>A NCBI36
NG_028190.1:g.8142A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.800-48A>T MANE Select ENSP00000364163.3:n.800-48A>T
ENST00000473562.1:n.929-48A>T
NM_004557.3:c.800-48A>T NP_004548.3:n.800-48A>T
NR_134949.1:n.939-48A>T
NR_134950.1:n.939-48A>T
NM_004557.4:c.800-48A>T MANE Select NP_004548.3:n.800-48A>T
NR_134949.2:n.939-48A>T
NR_134950.2:n.939-48A>T