Canonical Allele Identifier: CA239502447

Gene: TSPAN8

Linked Data

• dbSNP Id: rs974628240
• gnomAD v3: 12-71269150-C-T
• gnomAD v4: 12-71269150-C-T
• MyVariant Identifiers: chr12:g.71662930C>T (hg19) ; chr12:g.71269150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.71269150C>T , CM000674.2:g.71269150C>T	GRCh38
NC_000012.11:g.71662930C>T , CM000674.1:g.71662930C>T	GRCh37
NC_000012.10:g.69949197C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393330.6:c.-110+8201G>A	ENSP00000377003.2:n.-110+8201G>A
ENST00000549421.1:n.206+13566G>A