Canonical Allele Identifier: CA788486221
Gene:

Linked Data

dbSNP Id: rs1195888771
gnomAD v3: 4-144559234-A-T
gnomAD v4: 4-144559234-A-T
MyVariant Identifiers: chr4:g.145480386A>T (hg19) chr4:g.144559234A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559234A>T , CM000666.2:g.144559234A>T GRCh38
NC_000004.11:g.145480386A>T , CM000666.1:g.145480386A>T GRCh37
NC_000004.10:g.145699836A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143256T>A ENSP00000497507.1:n.328-143256T>A
XR_939272.1:n.178+2750T>A
XR_939273.1:n.178+2750T>A
XR_939272.2:n.522+2750T>A
XR_939273.2:n.522+2750T>A
Search 100 bp 5'
Search 100 bp 3'