Canonical Allele Identifier: CA2767163247
Gene: THBS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80065338A>C , CM000667.2:g.80065338A>C GRCh38
NC_000005.9:g.79361161A>C , CM000667.1:g.79361161A>C GRCh37
NC_000005.8:g.79396917A>C NCBI36
NG_047084.1:g.79028A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000350881.6:c.1126-71A>C MANE Select ENSP00000339730.2:n.1126-71A>C
ENST00000511733.1:c.853-71A>C ENSP00000422298.1:n.853-71A>C
NM_001306212.1:c.853-71A>C NP_001293141.1:n.853-71A>C
NM_001306213.1:c.853-71A>C NP_001293142.1:n.853-71A>C
NM_001306214.1:c.853-71A>C NP_001293143.1:n.853-71A>C
NM_003248.4:c.1126-71A>C NP_003239.2:n.1126-71A>C
NM_003248.5:c.1126-71A>C NP_003239.2:n.1126-71A>C
XM_017009798.2:c.1126-71A>C XP_016865287.1:n.1126-71A>C
XM_017009799.2:c.1126-71A>C XP_016865288.1:n.1126-71A>C
XR_002956176.1:n.1317-71A>C
NM_003248.6:c.1126-71A>C MANE Select NP_003239.2:n.1126-71A>C
NM_001306212.2:c.853-71A>C NP_001293141.1:n.853-71A>C
NM_001306213.2:c.853-71A>C NP_001293142.1:n.853-71A>C
NM_001306214.2:c.853-71A>C NP_001293143.1:n.853-71A>C