Canonical Allele Identifier: CA136911864
Gene: NOTCH4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2352760
ClinVar RCV Id: RCV004197023
dbSNP Id: rs996553122
gnomAD v2: 6-32188244-G-A
gnomAD v3: 6-32220467-G-A
gnomAD v4: 6-32220467-G-A
MyVariant Identifiers: chr6:g.32188244G>A (hg19) chr6:g.32220467G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220467G>A , CM000668.2:g.32220467G>A GRCh38
NC_000006.11:g.32188244G>A , CM000668.1:g.32188244G>A GRCh37
NC_000006.10:g.32296222G>A NCBI36
NG_028190.1:g.8601C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1097C>T MANE Select ENSP00000364163.3:p.Pro366Leu
ENST00000473562.1:n.1226C>T
NM_004557.3:c.1097C>T NP_004548.3:p.Pro366Leu
NR_134949.1:n.1236C>T
NR_134950.1:n.1236C>T
NM_004557.4:c.1097C>T MANE Select NP_004548.3:p.Pro366Leu
NR_134949.2:n.1236C>T
NR_134950.2:n.1236C>T
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