Canonical Allele Identifier: CA363558834
Gene: NOTCH4 HGNC NCBI

Linked Data

gnomAD v4: 6-32222672-A-G
MyVariant Identifiers: chr6:g.32190449A>G (hg19) chr6:g.32222672A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222672A>G , CM000668.2:g.32222672A>G GRCh38
NC_000006.11:g.32190449A>G , CM000668.1:g.32190449A>G GRCh37
NC_000006.10:g.32298427A>G NCBI36
NG_028190.1:g.6396T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.290T>C MANE Select ENSP00000364163.3:p.Leu97Ser
ENST00000473562.1:n.419T>C
NM_004557.3:c.290T>C NP_004548.3:p.Leu97Ser
NR_134949.1:n.429T>C
NR_134950.1:n.429T>C
NM_004557.4:c.290T>C MANE Select NP_004548.3:p.Leu97Ser
NR_134949.2:n.429T>C
NR_134950.2:n.429T>C
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