Canonical Allele Identifier: CA363558904
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127491052
gnomAD v4: 6-32222709-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222709G>A , CM000668.2:g.32222709G>A GRCh38
NC_000006.11:g.32190486G>A , CM000668.1:g.32190486G>A GRCh37
NC_000006.10:g.32298464G>A NCBI36
NG_028190.1:g.6359C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.253C>T MANE Select ENSP00000364163.3:p.Pro85Ser
ENST00000473562.1:n.382C>T
NM_004557.3:c.253C>T NP_004548.3:p.Pro85Ser
NR_134949.1:n.392C>T
NR_134950.1:n.392C>T
NM_004557.4:c.253C>T MANE Select NP_004548.3:p.Pro85Ser
NR_134949.2:n.392C>T
NR_134950.2:n.392C>T