Canonical Allele Identifier: CA1619467798
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1788442355
gnomAD v4: 6-32202891-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202891A>G , CM000668.2:g.32202891A>G GRCh38
NC_000006.11:g.32170668A>G , CM000668.1:g.32170668A>G GRCh37
NC_000006.10:g.32278646A>G NCBI36
NG_028190.1:g.26177T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-292T>C MANE Select ENSP00000364163.3:n.3232-292T>C
ENST00000474612.1:n.1026T>C
NM_004557.3:c.3232-292T>C NP_004548.3:n.3232-292T>C
NR_134949.1:n.3472+879T>C
NR_134950.1:n.3370+879T>C
NM_004557.4:c.3232-292T>C MANE Select NP_004548.3:n.3232-292T>C
NR_134949.2:n.3472+879T>C
NR_134950.2:n.3370+879T>C
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