Canonical Allele Identifier: CA3740146
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs373626070
gnomAD v2: 6-32188650-T-C
gnomAD v3: 6-32220873-T-C
gnomAD v4: 6-32220873-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220873T>C , CM000668.2:g.32220873T>C GRCh38
NC_000006.11:g.32188650T>C , CM000668.1:g.32188650T>C GRCh37
NC_000006.10:g.32296628T>C NCBI36
NG_028190.1:g.8195A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.805A>G MANE Select ENSP00000364163.3:p.Ile269Val
ENST00000473562.1:n.934A>G
NM_004557.3:c.805A>G NP_004548.3:p.Ile269Val
NR_134949.1:n.944A>G
NR_134950.1:n.944A>G
NM_004557.4:c.805A>G MANE Select NP_004548.3:p.Ile269Val
NR_134949.2:n.944A>G
NR_134950.2:n.944A>G