Canonical Allele Identifier: CA11591987
Gene:

Linked Data

dbSNP Id: rs4373084
gnomAD v2: 3-19017386-G-T
gnomAD v3: 3-18975894-G-T
gnomAD v4: 3-18975894-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.18975894G>T , CM000665.2:g.18975894G>T GRCh38
NC_000003.11:g.19017386G>T , CM000665.1:g.19017386G>T GRCh37
NC_000003.10:g.18992390G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940638.1:n.437+7656C>A
XR_001740612.1:n.774+7656C>A
XR_001740613.1:n.303+9487G>T
XR_001740614.1:n.303+9487G>T
XR_001740615.1:n.304+9487G>T
XR_001740616.1:n.304+9487G>T