Canonical Allele Identifier: CA566373246
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1310989145
gnomAD v2: 6-32170697-T-A
gnomAD v3: 6-32202920-T-A
gnomAD v4: 6-32202920-T-A
MyVariant Identifiers: chr6:g.32170697T>A (hg19) chr6:g.32202920T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202920T>A , CM000668.2:g.32202920T>A GRCh38
NC_000006.11:g.32170697T>A , CM000668.1:g.32170697T>A GRCh37
NC_000006.10:g.32278675T>A NCBI36
NG_028190.1:g.26148A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-321A>T MANE Select ENSP00000364163.3:n.3232-321A>T
ENST00000474612.1:n.997A>T
NM_004557.3:c.3232-321A>T NP_004548.3:n.3232-321A>T
NR_134949.1:n.3472+850A>T
NR_134950.1:n.3370+850A>T
NM_004557.4:c.3232-321A>T MANE Select NP_004548.3:n.3232-321A>T
NR_134949.2:n.3472+850A>T
NR_134950.2:n.3370+850A>T
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