Canonical Allele Identifier: CA823942635
Gene: NOTCH4 HGNC NCBI

Linked Data

dbSNP Id: rs1242797446
gnomAD v3: 6-32202704-C-A
gnomAD v4: 6-32202704-C-A
MyVariant Identifiers: chr6:g.32170481C>A (hg19) chr6:g.32202704C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32202704C>A , CM000668.2:g.32202704C>A GRCh38
NC_000006.11:g.32170481C>A , CM000668.1:g.32170481C>A GRCh37
NC_000006.10:g.32278459C>A NCBI36
NG_028190.1:g.26364G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375023.3:c.3232-105G>T MANE Select ENSP00000364163.3:n.3232-105G>T
ENST00000474612.1:n.1213G>T
NM_004557.3:c.3232-105G>T NP_004548.3:n.3232-105G>T
NR_134949.1:n.3472+1066G>T
NR_134950.1:n.3370+1066G>T
NM_004557.4:c.3232-105G>T MANE Select NP_004548.3:n.3232-105G>T
NR_134949.2:n.3472+1066G>T
NR_134950.2:n.3370+1066G>T
Search 100 bp 5'
Search 100 bp 3'