Canonical Allele Identifier: CA667950929
Gene:

Linked Data

dbSNP Id: rs1405688433
gnomAD v3: 10-7047107-A-T
gnomAD v4: 10-7047107-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.7047107A>T , CM000672.2:g.7047107A>T GRCh38
NC_000010.10:g.7089069A>T , CM000672.1:g.7089069A>T GRCh37
NC_000010.9:g.7129075A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930623.1:n.173-16790T>A
XR_930624.1:n.171-16790T>A
XR_930625.1:n.172-16790T>A
XR_930626.1:n.168-16790T>A
XR_930627.1:n.173-16790T>A
XR_001747351.1:n.364-16790T>A
XR_001747352.1:n.364-16790T>A
XR_001747353.1:n.188-34451T>A
XR_001747354.1:n.364-16790T>A
XR_930623.2:n.364-16790T>A
XR_930624.2:n.364-16790T>A
XR_930625.2:n.364-16790T>A
XR_930626.2:n.364-16790T>A
XR_930627.2:n.364-16790T>A