Canonical Allele Identifier: CA2678138088
Gene: NOTCH4 HGNC NCBI

Linked Data

gnomAD v4: 6-32220646-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220646A>G , CM000668.2:g.32220646A>G GRCh38
NC_000006.11:g.32188423A>G , CM000668.1:g.32188423A>G GRCh37
NC_000006.10:g.32296401A>G NCBI36
NG_028190.1:g.8422T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.923-5T>C MANE Select ENSP00000364163.3:n.923-5T>C
ENST00000473562.1:n.1052-5T>C
NM_004557.3:c.923-5T>C NP_004548.3:n.923-5T>C
NR_134949.1:n.1062-5T>C
NR_134950.1:n.1062-5T>C
NM_004557.4:c.923-5T>C MANE Select NP_004548.3:n.923-5T>C
NR_134949.2:n.1062-5T>C
NR_134950.2:n.1062-5T>C