Canonical Allele Identifier: CA363557501
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127488250
gnomAD v4: 6-32220780-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220780A>G , CM000668.2:g.32220780A>G GRCh38
NC_000006.11:g.32188557A>G , CM000668.1:g.32188557A>G GRCh37
NC_000006.10:g.32296535A>G NCBI36
NG_028190.1:g.8288T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.898T>C MANE Select ENSP00000364163.3:p.Cys300Arg
ENST00000473562.1:n.1027T>C
NM_004557.3:c.898T>C NP_004548.3:p.Cys300Arg
NR_134949.1:n.1037T>C
NR_134950.1:n.1037T>C
NM_004557.4:c.898T>C MANE Select NP_004548.3:p.Cys300Arg
NR_134949.2:n.1037T>C
NR_134950.2:n.1037T>C