Canonical Allele Identifier: CA298296886

Gene:

Linked Data

• dbSNP Id: rs1000104931
• gnomAD v2: 18-29336883-G-A
• gnomAD v3: 18-31756920-G-A
• gnomAD v4: 18-31756920-G-A
• MyVariant Identifiers: chr18:g.29336883G>A (hg19) ; chr18:g.31756920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31756920G>A , CM000680.2:g.31756920G>A	GRCh38
NC_000018.9:g.29336883G>A , CM000680.1:g.29336883G>A	GRCh37
NC_000018.8:g.27590881G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_935338.1:n.66-5219G>A