Canonical Allele Identifier: CA1077922899
Gene: THBS4 HGNC NCBI

Linked Data

dbSNP Id: rs1833777358
gnomAD v3: 5-80065377-C-A
gnomAD v4: 5-80065377-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80065377C>A , CM000667.2:g.80065377C>A GRCh38
NC_000005.9:g.79361200C>A , CM000667.1:g.79361200C>A GRCh37
NC_000005.8:g.79396956C>A NCBI36
NG_047084.1:g.79067C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000350881.6:c.1126-32C>A MANE Select ENSP00000339730.2:n.1126-32C>A
ENST00000511733.1:c.853-32C>A ENSP00000422298.1:n.853-32C>A
NM_001306212.1:c.853-32C>A NP_001293141.1:n.853-32C>A
NM_001306213.1:c.853-32C>A NP_001293142.1:n.853-32C>A
NM_001306214.1:c.853-32C>A NP_001293143.1:n.853-32C>A
NM_003248.4:c.1126-32C>A NP_003239.2:n.1126-32C>A
NM_003248.5:c.1126-32C>A NP_003239.2:n.1126-32C>A
XM_017009798.2:c.1126-32C>A XP_016865287.1:n.1126-32C>A
XM_017009799.2:c.1126-32C>A XP_016865288.1:n.1126-32C>A
XR_002956176.1:n.1317-32C>A
NM_003248.6:c.1126-32C>A MANE Select NP_003239.2:n.1126-32C>A
NM_001306212.2:c.853-32C>A NP_001293141.1:n.853-32C>A
NM_001306213.2:c.853-32C>A NP_001293142.1:n.853-32C>A
NM_001306214.2:c.853-32C>A NP_001293143.1:n.853-32C>A