Canonical Allele Identifier: CA855860475

Gene:

Linked Data

• dbSNP Id: rs542057656
• gnomAD v3: 8-81478401-G-C
• gnomAD v4: 8-81478401-G-C
• MyVariant Identifiers: chr8:g.82390636G>C (hg19) ; chr8:g.81478401G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.81478401G>C , CM000670.2:g.81478401G>C	GRCh38
NC_000008.10:g.82390636G>C , CM000670.1:g.82390636G>C	GRCh37
NC_000008.9:g.82553191G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745980.1:n.514+16427G>C