Canonical Allele Identifier: CA363557373
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1271257357
gnomAD v2: 6-32188392-C-T
gnomAD v4: 6-32220615-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220615C>T , CM000668.2:g.32220615C>T GRCh38
NC_000006.11:g.32188392C>T , CM000668.1:g.32188392C>T GRCh37
NC_000006.10:g.32296370C>T NCBI36
NG_028190.1:g.8453G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.949G>A MANE Select ENSP00000364163.3:p.Glu317Lys
ENST00000473562.1:n.1078G>A
NM_004557.3:c.949G>A NP_004548.3:p.Glu317Lys
NR_134949.1:n.1088G>A
NR_134950.1:n.1088G>A
NM_004557.4:c.949G>A MANE Select NP_004548.3:p.Glu317Lys
NR_134949.2:n.1088G>A
NR_134950.2:n.1088G>A