Canonical Allele Identifier: CA823942636
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1195369675
gnomAD v3: 6-32202717-C-T
gnomAD v4: 6-32202717-C-T
MyVariant Identifiers: chr6:g.32170494C>T (hg19) chr6:g.32202717C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202717C>T , CM000668.2:g.32202717C>T GRCh38
NC_000006.11:g.32170494C>T , CM000668.1:g.32170494C>T GRCh37
NC_000006.10:g.32278472C>T NCBI36
NG_028190.1:g.26351G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-118G>A MANE Select ENSP00000364163.3:n.3232-118G>A
ENST00000474612.1:n.1200G>A
NM_004557.3:c.3232-118G>A NP_004548.3:n.3232-118G>A
NR_134949.1:n.3472+1053G>A
NR_134950.1:n.3370+1053G>A
NM_004557.4:c.3232-118G>A MANE Select NP_004548.3:n.3232-118G>A
NR_134949.2:n.3472+1053G>A
NR_134950.2:n.3370+1053G>A
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