Canonical Allele Identifier: CA363557398
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1789699440
gnomAD v4: 6-32220626-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220626T>G , CM000668.2:g.32220626T>G GRCh38
NC_000006.11:g.32188403T>G , CM000668.1:g.32188403T>G GRCh37
NC_000006.10:g.32296381T>G NCBI36
NG_028190.1:g.8442A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.938A>C MANE Select ENSP00000364163.3:p.Glu313Ala
ENST00000473562.1:n.1067A>C
NM_004557.3:c.938A>C NP_004548.3:p.Glu313Ala
NR_134949.1:n.1077A>C
NR_134950.1:n.1077A>C
NM_004557.4:c.938A>C MANE Select NP_004548.3:p.Glu313Ala
NR_134949.2:n.1077A>C
NR_134950.2:n.1077A>C