Canonical Allele Identifier: CA363557195
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127487552
MyVariant Identifiers: chr6:g.32188314A>C (hg19) chr6:g.32220537A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32220537A>C , CM000668.2:g.32220537A>C GRCh38
NC_000006.11:g.32188314A>C , CM000668.1:g.32188314A>C GRCh37
NC_000006.10:g.32296292A>C NCBI36
NG_028190.1:g.8531T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.1027T>G MANE Select ENSP00000364163.3:p.Cys343Gly
ENST00000473562.1:n.1156T>G
NM_004557.3:c.1027T>G NP_004548.3:p.Cys343Gly
NR_134949.1:n.1166T>G
NR_134950.1:n.1166T>G
NM_004557.4:c.1027T>G MANE Select NP_004548.3:p.Cys343Gly
NR_134949.2:n.1166T>G
NR_134950.2:n.1166T>G
Search 100 bp 5'
Search 100 bp 3'