Canonical Allele Identifier: CA2627736677

Gene: THBS1

Linked Data

• gnomAD v4: 15-39581140-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39581140C>A , CM000677.2:g.39581140C>A	GRCh38
NC_000015.9:g.39873341C>A , CM000677.1:g.39873341C>A	GRCh37
NC_000015.8:g.37660633C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260356.6:c.-118C>A MANE Select	ENSP00000260356.5:n.-118C>A
ENST00000260356.5:c.-118C>A	ENSP00000260356.5:n.-118C>A
ENST00000397591.2:c.-239C>A	ENSP00000380720.2:n.-239C>A
NM_003246.2:c.-118C>A	NP_003237.2:n.-118C>A
NM_003246.3:c.-118C>A	NP_003237.2:n.-118C>A
XM_011521970.1:c.-239C>A	XP_011520272.1:n.-239C>A
XM_011521971.1:c.-118C>A	XP_011520273.1:n.-118C>A
XR_931897.1:n.58C>A
XM_011521971.2:c.-118C>A	XP_011520273.1:n.-118C>A
NM_003246.4:c.-118C>A MANE Select	NP_003237.2:n.-118C>A