Canonical Allele Identifier: CA3740111
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs779188122
ExAC: 6:32188432 G / A
gnomAD v2: 6-32188432-G-A
gnomAD v4: 6-32220655-G-A
MyVariant Identifiers: chr6:g.32188432G>A (hg19) chr6:g.32220655G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220655G>A , CM000668.2:g.32220655G>A GRCh38
NC_000006.11:g.32188432G>A , CM000668.1:g.32188432G>A GRCh37
NC_000006.10:g.32296410G>A NCBI36
NG_028190.1:g.8413C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.923-14C>T MANE Select ENSP00000364163.3:n.923-14C>T
ENST00000473562.1:n.1052-14C>T
NM_004557.3:c.923-14C>T NP_004548.3:n.923-14C>T
NR_134949.1:n.1062-14C>T
NR_134950.1:n.1062-14C>T
NM_004557.4:c.923-14C>T MANE Select NP_004548.3:n.923-14C>T
NR_134949.2:n.1062-14C>T
NR_134950.2:n.1062-14C>T
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