Canonical Allele Identifier: CA363557503
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1363046520
gnomAD v2: 6-32188559-G-A
gnomAD v3: 6-32220782-G-A
gnomAD v4: 6-32220782-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220782G>A , CM000668.2:g.32220782G>A GRCh38
NC_000006.11:g.32188559G>A , CM000668.1:g.32188559G>A GRCh37
NC_000006.10:g.32296537G>A NCBI36
NG_028190.1:g.8286C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.896C>T MANE Select ENSP00000364163.3:p.Thr299Ile
ENST00000473562.1:n.1025C>T
NM_004557.3:c.896C>T NP_004548.3:p.Thr299Ile
NR_134949.1:n.1035C>T
NR_134950.1:n.1035C>T
NM_004557.4:c.896C>T MANE Select NP_004548.3:p.Thr299Ile
NR_134949.2:n.1035C>T
NR_134950.2:n.1035C>T