Canonical Allele Identifier: CA3740082
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs150865986
ExAC: 6:32188280 T / G
gnomAD v2: 6-32188280-T-G
gnomAD v4: 6-32220503-T-G
MyVariant Identifiers: chr6:g.32188280T>G (hg19) chr6:g.32220503T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220503T>G , CM000668.2:g.32220503T>G GRCh38
NC_000006.11:g.32188280T>G , CM000668.1:g.32188280T>G GRCh37
NC_000006.10:g.32296258T>G NCBI36
NG_028190.1:g.8565A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1061A>C MANE Select ENSP00000364163.3:p.Glu354Ala
ENST00000473562.1:n.1190A>C
NM_004557.3:c.1061A>C NP_004548.3:p.Glu354Ala
NR_134949.1:n.1200A>C
NR_134950.1:n.1200A>C
NM_004557.4:c.1061A>C MANE Select NP_004548.3:p.Glu354Ala
NR_134949.2:n.1200A>C
NR_134950.2:n.1200A>C
Search 100 bp 5'
Search 100 bp 3'