Canonical Allele Identifier: CA363558785
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs2127490858
MyVariant Identifiers: chr6:g.32190426A>G (hg19) chr6:g.32222649A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32222649A>G , CM000668.2:g.32222649A>G GRCh38
NC_000006.11:g.32190426A>G , CM000668.1:g.32190426A>G GRCh37
NC_000006.10:g.32298404A>G NCBI36
NG_028190.1:g.6419T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.313T>C MANE Select ENSP00000364163.3:p.Cys105Arg
ENST00000473562.1:n.442T>C
NM_004557.3:c.313T>C NP_004548.3:p.Cys105Arg
NR_134949.1:n.452T>C
NR_134950.1:n.452T>C
NM_004557.4:c.313T>C MANE Select NP_004548.3:p.Cys105Arg
NR_134949.2:n.452T>C
NR_134950.2:n.452T>C
Search 100 bp 5'
Search 100 bp 3'