Canonical Allele Identifier: CA3740151
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs781449959
gnomAD v2: 6-32188694-A-G
gnomAD v4: 6-32220917-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220917A>G , CM000668.2:g.32220917A>G GRCh38
NC_000006.11:g.32188694A>G , CM000668.1:g.32188694A>G GRCh37
NC_000006.10:g.32296672A>G NCBI36
NG_028190.1:g.8151T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.800-39T>C MANE Select ENSP00000364163.3:n.800-39T>C
ENST00000473562.1:n.929-39T>C
NM_004557.3:c.800-39T>C NP_004548.3:n.800-39T>C
NR_134949.1:n.939-39T>C
NR_134950.1:n.939-39T>C
NM_004557.4:c.800-39T>C MANE Select NP_004548.3:n.800-39T>C
NR_134949.2:n.939-39T>C
NR_134950.2:n.939-39T>C