Canonical Allele Identifier: CA170613629

Gene:

Linked Data

• dbSNP Id: rs1004981698
• gnomAD v3: 8-2923362-G-C
• gnomAD v4: 8-2923362-G-C
• MyVariant Identifiers: chr8:g.2780884G>C (hg19) ; chr8:g.2923362G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.2923362G>C , CM000670.2:g.2923362G>C	GRCh38
NC_000008.10:g.2780884G>C , CM000670.1:g.2780884G>C	GRCh37
NC_000008.9:g.2768291G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_941365.1:n.127+200C>G
XR_941367.1:n.212-2403G>C
XR_002956657.1:n.1002-2403G>C
XR_002956658.1:n.3030-2403G>C
NR_168441.1:n.1167-77643G>C
NR_168442.1:n.1698-2403G>C
NR_168443.1:n.1172-85206G>C
NR_168444.1:n.1167-66176G>C
NR_168445.1:n.1250-66176G>C