Canonical Allele Identifier: CA449829261
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1241886708
gnomAD v4: 6-32220778-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220778G>A , CM000668.2:g.32220778G>A GRCh38
NC_000006.11:g.32188555G>A , CM000668.1:g.32188555G>A GRCh37
NC_000006.10:g.32296533G>A NCBI36
NG_028190.1:g.8290C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.900C>T MANE Select ENSP00000364163.3:p.Cys300=
ENST00000473562.1:n.1029C>T
NM_004557.3:c.900C>T NP_004548.3:p.Cys300=
NR_134949.1:n.1039C>T
NR_134950.1:n.1039C>T
NM_004557.4:c.900C>T MANE Select NP_004548.3:p.Cys300=
NR_134949.2:n.1039C>T
NR_134950.2:n.1039C>T