Canonical Allele Identifier: CA182463663

Gene:

Linked Data

• dbSNP Id: rs981082526
• gnomAD v3: 8-97269744-G-C
• gnomAD v4: 8-97269744-G-C
• MyVariant Identifiers: chr8:g.98281972G>C (hg19) ; chr8:g.97269744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.97269744G>C , CM000670.2:g.97269744G>C	GRCh38
NC_000008.10:g.98281972G>C , CM000670.1:g.98281972G>C	GRCh37
NC_000008.9:g.98351148G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125390.1:n.471+149326C>G