Canonical Allele Identifier: CA363558663
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1238773797
gnomAD v2: 6-32190371-G-A
gnomAD v4: 6-32222594-G-A
MyVariant Identifiers: chr6:g.32190371G>A (hg19) chr6:g.32222594G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222594G>A , CM000668.2:g.32222594G>A GRCh38
NC_000006.11:g.32190371G>A , CM000668.1:g.32190371G>A GRCh37
NC_000006.10:g.32298349G>A NCBI36
NG_028190.1:g.6474C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.368C>T MANE Select ENSP00000364163.3:p.Pro123Leu
ENST00000473562.1:n.497C>T
NM_004557.3:c.368C>T NP_004548.3:p.Pro123Leu
NR_134949.1:n.507C>T
NR_134950.1:n.507C>T
NM_004557.4:c.368C>T MANE Select NP_004548.3:p.Pro123Leu
NR_134949.2:n.507C>T
NR_134950.2:n.507C>T
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