Canonical Allele Identifier: CA107748818
Gene:

Linked Data

dbSNP Id: rs776288424
gnomAD v2: 4-145481019-A-T
gnomAD v3: 4-144559867-A-T
gnomAD v4: 4-144559867-A-T
MyVariant Identifiers: chr4:g.145481019A>T (hg19) chr4:g.144559867A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559867A>T , CM000666.2:g.144559867A>T GRCh38
NC_000004.11:g.145481019A>T , CM000666.1:g.145481019A>T GRCh37
NC_000004.10:g.145700469A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143889T>A ENSP00000497507.1:n.328-143889T>A
XR_939272.1:n.178+2117T>A
XR_939273.1:n.178+2117T>A
XR_939272.2:n.522+2117T>A
XR_939273.2:n.522+2117T>A
Search 100 bp 5'
Search 100 bp 3'