Canonical Allele Identifier: CA1066321251
Gene:

Linked Data

dbSNP Id: rs1724788296
gnomAD v3: 4-105542949-C-A
gnomAD v4: 4-105542949-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.105542949C>A , CM000666.2:g.105542949C>A GRCh38
NC_000004.11:g.106464106C>A , CM000666.1:g.106464106C>A GRCh37
NC_000004.10:g.106683555C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939038.1:n.296-240G>T
XR_939039.1:n.456-240G>T
XR_939040.1:n.296-1473G>T
XR_001741410.1:n.311-240G>T
XR_001741411.1:n.787-240G>T
XR_001741412.1:n.311-240G>T
XR_001741413.1:n.311-240G>T
XR_001741414.1:n.311-240G>T
XR_939038.2:n.311-240G>T
XR_939040.2:n.311-1473G>T
Search 100 bp 5'
Search 100 bp 3'