Canonical Allele Identifier: CA1087512153
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs764411487
gnomAD v3: 6-32220896-C-G
gnomAD v4: 6-32220896-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220896C>G , CM000668.2:g.32220896C>G GRCh38
NC_000006.11:g.32188673C>G , CM000668.1:g.32188673C>G GRCh37
NC_000006.10:g.32296651C>G NCBI36
NG_028190.1:g.8172G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.800-18G>C MANE Select ENSP00000364163.3:n.800-18G>C
ENST00000473562.1:n.929-18G>C
NM_004557.3:c.800-18G>C NP_004548.3:n.800-18G>C
NR_134949.1:n.939-18G>C
NR_134950.1:n.939-18G>C
NM_004557.4:c.800-18G>C MANE Select NP_004548.3:n.800-18G>C
NR_134949.2:n.939-18G>C
NR_134950.2:n.939-18G>C
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