Canonical Allele Identifier: CA185688690

Gene:

Linked Data

• dbSNP Id: rs76056717
• gnomAD v2: 8-128011892-A-T
• gnomAD v3: 8-126999647-A-T
• gnomAD v4: 8-126999647-A-T
• MyVariant Identifiers: chr8:g.128011892A>T (hg19) ; chr8:g.126999647A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999647A>T , CM000670.2:g.126999647A>T	GRCh38
NC_000008.10:g.128011892A>T , CM000670.1:g.128011892A>T	GRCh37
NC_000008.9:g.128081074A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-6908A>T