Canonical Allele Identifier: CA182463561

Gene:

Linked Data

• dbSNP Id: rs191431563
• gnomAD v2: 8-98281866-G-C
• gnomAD v3: 8-97269638-G-C
• gnomAD v4: 8-97269638-G-C
• MyVariant Identifiers: chr8:g.98281866G>C (hg19) ; chr8:g.97269638G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269638G>C , CM000670.2:g.97269638G>C	GRCh38
NC_000008.10:g.98281866G>C , CM000670.1:g.98281866G>C	GRCh37
NC_000008.9:g.98351042G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149432C>G