Canonical Allele Identifier: CA3740389
Gene: NOTCH4 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32223953G>A
GRCh37 chr6:g.32191730G>A
gnomAD v2:
6:32191730 G / A
gnomAD v3:
6:32223953 G / A
gnomAD v4:
chr6-32223953-G-A
Joint Max Group AF 0.5636713 (AFR)
Genomes Max Group AF 0.56110214 (AFR)
Exomes Max Group AF 0.5626837 (AFR)
dbSNP:
367398
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32223953G>A , CM000668.2:g.32223953G>A GRCh38
NC_000006.11:g.32191730G>A , CM000668.1:g.32191730G>A GRCh37
NC_000006.10:g.32299708G>A NCBI36
NG_028190.1:g.5115C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.-25C>T MANE Select ENSP00000364163.3:n.-25C>T
ENST00000473562.1:n.105C>T
NM_004557.3:c.-25C>T NP_004548.3:n.-25C>T
NR_134949.1:n.115C>T
NR_134950.1:n.115C>T
NM_004557.4:c.-25C>T MANE Select NP_004548.3:n.-25C>T
NR_134949.2:n.115C>T
NR_134950.2:n.115C>T
Search 100 bp 5'
Search 100 bp 3'