Canonical Allele Identifier: CA180041981

Gene:

Linked Data

• dbSNP Id: rs984189295
• gnomAD v3: 8-77413691-A-G
• gnomAD v4: 8-77413691-A-G
• MyVariant Identifiers: chr8:g.78325927A>G (hg19) ; chr8:g.77413691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.77413691A>G , CM000670.2:g.77413691A>G	GRCh38
NC_000008.10:g.78325927A>G , CM000670.1:g.78325927A>G	GRCh37
NC_000008.9:g.78488482A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_929071.1:n.231-4987A>G
XR_001745963.1:n.191-4987A>G