Canonical Allele Identifier: CA31701836

Gene:

Linked Data

• dbSNP Id: rs757653423
• gnomAD v3: 1-168649473-G-A
• gnomAD v4: 1-168649473-G-A
• MyVariant Identifiers: chr1:g.168618711G>A (hg19) ; chr1:g.168649473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649473G>A , CM000663.2:g.168649473G>A	GRCh38
NC_000001.10:g.168618711G>A , CM000663.1:g.168618711G>A	GRCh37
NC_000001.9:g.166885335G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-8198C>T
XR_922259.2:n.332-8198C>T