Canonical Allele Identifier: CA363557178
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1486167088
gnomAD v2: 6-32188307-C-T
MyVariant Identifiers: chr6:g.32188307C>T (hg19) chr6:g.32220530C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220530C>T , CM000668.2:g.32220530C>T GRCh38
NC_000006.11:g.32188307C>T , CM000668.1:g.32188307C>T GRCh37
NC_000006.10:g.32296285C>T NCBI36
NG_028190.1:g.8538G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1034G>A MANE Select ENSP00000364163.3:p.Ser345Asn
ENST00000473562.1:n.1163G>A
NM_004557.3:c.1034G>A NP_004548.3:p.Ser345Asn
NR_134949.1:n.1173G>A
NR_134950.1:n.1173G>A
NM_004557.4:c.1034G>A MANE Select NP_004548.3:p.Ser345Asn
NR_134949.2:n.1173G>A
NR_134950.2:n.1173G>A
Search 100 bp 5'
Search 100 bp 3'