Canonical Allele Identifier: CA15440047
Gene: NOTCH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1179245
ClinVar RCV Id: RCV001536181
dbSNP Id: rs2071278
gnomAD v2: 6-32165444-A-G
gnomAD v3: 6-32197667-A-G
gnomAD v4: 6-32197667-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32197667A>G , CM000668.2:g.32197667A>G GRCh38
NC_000006.11:g.32165444A>G , CM000668.1:g.32165444A>G GRCh37
NC_000006.10:g.32273422A>G NCBI36
NG_028190.1:g.31401T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375023.3:c.4757-73T>C MANE Select ENSP00000364163.3:n.4757-73T>C
ENST00000474612.1:n.3418-73T>C
NM_004557.3:c.4757-73T>C NP_004548.3:n.4757-73T>C
NR_134949.1:n.4465-73T>C
NR_134950.1:n.4363-73T>C
NM_004557.4:c.4757-73T>C MANE Select NP_004548.3:n.4757-73T>C
NR_134949.2:n.4465-73T>C
NR_134950.2:n.4363-73T>C