Canonical Allele Identifier: CA555415605
Gene:

Linked Data

dbSNP Id: rs1049496388
gnomAD v2: 4-145480490-G-T
gnomAD v3: 4-144559338-G-T
gnomAD v4: 4-144559338-G-T
MyVariant Identifiers: chr4:g.145480490G>T (hg19) chr4:g.144559338G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559338G>T , CM000666.2:g.144559338G>T GRCh38
NC_000004.11:g.145480490G>T , CM000666.1:g.145480490G>T GRCh37
NC_000004.10:g.145699940G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143360C>A ENSP00000497507.1:n.328-143360C>A
XR_939272.1:n.178+2646C>A
XR_939273.1:n.178+2646C>A
XR_939272.2:n.522+2646C>A
XR_939273.2:n.522+2646C>A
Search 100 bp 5'
Search 100 bp 3'