Canonical Allele Identifier: CA3739498
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs775447127
ExAC: 6:32170426 C / T
gnomAD v2: 6-32170426-C-T
gnomAD v3: 6-32202649-C-T
gnomAD v4: 6-32202649-C-T
MyVariant Identifiers: chr6:g.32170426C>T (hg19) chr6:g.32202649C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202649C>T , CM000668.2:g.32202649C>T GRCh38
NC_000006.11:g.32170426C>T , CM000668.1:g.32170426C>T GRCh37
NC_000006.10:g.32278404C>T NCBI36
NG_028190.1:g.26419G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-50G>A MANE Select ENSP00000364163.3:n.3232-50G>A
ENST00000474612.1:n.1268G>A
NM_004557.3:c.3232-50G>A NP_004548.3:n.3232-50G>A
NR_134949.1:n.3472+1121G>A
NR_134950.1:n.3370+1121G>A
NM_004557.4:c.3232-50G>A MANE Select NP_004548.3:n.3232-50G>A
NR_134949.2:n.3472+1121G>A
NR_134950.2:n.3370+1121G>A
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