Canonical Allele Identifier: CA3739130
Gene: NOTCH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 285625
ClinVar RCV Id: RCV000326235
dbSNP Id: rs148746475
gnomAD v2: 6-32165201-G-A
gnomAD v3: 6-32197424-G-A
gnomAD v4: 6-32197424-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32197424G>A , CM000668.2:g.32197424G>A GRCh38
NC_000006.11:g.32165201G>A , CM000668.1:g.32165201G>A GRCh37
NC_000006.10:g.32273179G>A NCBI36
NG_028190.1:g.31644C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375023.3:c.4927C>T MANE Select ENSP00000364163.3:p.Arg1643Ter
ENST00000474612.1:n.3588C>T
NM_004557.3:c.4927C>T NP_004548.3:p.Arg1643Ter
NR_134949.1:n.4635C>T
NR_134950.1:n.4533C>T
NM_004557.4:c.4927C>T MANE Select NP_004548.3:p.Arg1643Ter
NR_134949.2:n.4635C>T
NR_134950.2:n.4533C>T