Canonical Allele Identifier: CA18888184

Gene:

Linked Data

• dbSNP Id: rs138261220
• gnomAD v2: 1-20200931-A-G
• gnomAD v3: 1-19874438-A-G
• gnomAD v4: 1-19874438-A-G
• MyVariant Identifiers: chr1:g.20200931A>G (hg19) ; chr1:g.19874438A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.19874438A>G , CM000663.2:g.19874438A>G	GRCh38
NC_000001.10:g.20200931A>G , CM000663.1:g.20200931A>G	GRCh37
NC_000001.9:g.20073518A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_947027.1:n.266-8686T>C
XR_947028.1:n.266-8686T>C
XR_947027.2:n.167-8686T>C
XR_947028.2:n.167-8686T>C