Canonical Allele Identifier: CA449829050
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127487288
gnomAD v4: 6-32220481-A-G
MyVariant Identifiers: chr6:g.32188258A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220481A>G , CM000668.2:g.32220481A>G GRCh38
NC_000006.11:g.32188258A>G , CM000668.1:g.32188258A>G GRCh37
NC_000006.10:g.32296236A>G NCBI36
NG_028190.1:g.8587T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1083T>C MANE Select ENSP00000364163.3:p.Ala361=
ENST00000473562.1:n.1212T>C
NM_004557.3:c.1083T>C NP_004548.3:p.Ala361=
NR_134949.1:n.1222T>C
NR_134950.1:n.1222T>C
NM_004557.4:c.1083T>C MANE Select NP_004548.3:p.Ala361=
NR_134949.2:n.1222T>C
NR_134950.2:n.1222T>C
Search 100 bp 5'
Search 100 bp 3'