Canonical Allele Identifier: CA360233501

Gene: THBS4

Linked Data

• MyVariant Identifiers: chr5:g.79361296C>A (hg19) ; chr5:g.80065473C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80065473C>A , CM000667.2:g.80065473C>A	GRCh38
NC_000005.9:g.79361296C>A , CM000667.1:g.79361296C>A	GRCh37
NC_000005.8:g.79397052C>A	NCBI36
NG_047084.1:g.79163C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350881.6:c.1190C>A MANE Select	ENSP00000339730.2:p.Thr397Asn
ENST00000511733.1:c.917C>A	ENSP00000422298.1:p.Thr306Asn
NM_001306212.1:c.917C>A	NP_001293141.1:p.Thr306Asn
NM_001306213.1:c.917C>A	NP_001293142.1:p.Thr306Asn
NM_001306214.1:c.917C>A	NP_001293143.1:p.Thr306Asn
NM_003248.4:c.1190C>A	NP_003239.2:p.Thr397Asn
NM_003248.5:c.1190C>A	NP_003239.2:p.Thr397Asn
XM_017009798.2:c.1190C>A	XP_016865287.1:p.Thr397Asn
XM_017009799.2:c.1190C>A	XP_016865288.1:p.Thr397Asn
XR_002956176.1:n.1381C>A
NM_003248.6:c.1190C>A MANE Select	NP_003239.2:p.Thr397Asn
NM_001306212.2:c.917C>A	NP_001293141.1:p.Thr306Asn
NM_001306213.2:c.917C>A	NP_001293142.1:p.Thr306Asn
NM_001306214.2:c.917C>A	NP_001293143.1:p.Thr306Asn