Canonical Allele Identifier: CA360233406

Gene: THBS4

Linked Data

• gnomAD v4: 5-80065452-C-G
• MyVariant Identifiers: chr5:g.79361275C>G (hg19) ; chr5:g.80065452C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80065452C>G , CM000667.2:g.80065452C>G	GRCh38
NC_000005.9:g.79361275C>G , CM000667.1:g.79361275C>G	GRCh37
NC_000005.8:g.79397031C>G	NCBI36
NG_047084.1:g.79142C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350881.6:c.1169C>G MANE Select	ENSP00000339730.2:p.Pro390Arg
ENST00000511733.1:c.896C>G	ENSP00000422298.1:p.Pro299Arg
NM_001306212.1:c.896C>G	NP_001293141.1:p.Pro299Arg
NM_001306213.1:c.896C>G	NP_001293142.1:p.Pro299Arg
NM_001306214.1:c.896C>G	NP_001293143.1:p.Pro299Arg
NM_003248.4:c.1169C>G	NP_003239.2:p.Pro390Arg
NM_003248.5:c.1169C>G	NP_003239.2:p.Pro390Arg
XM_017009798.2:c.1169C>G	XP_016865287.1:p.Pro390Arg
XM_017009799.2:c.1169C>G	XP_016865288.1:p.Pro390Arg
XR_002956176.1:n.1360C>G
NM_003248.6:c.1169C>G MANE Select	NP_003239.2:p.Pro390Arg
NM_001306212.2:c.896C>G	NP_001293141.1:p.Pro299Arg
NM_001306213.2:c.896C>G	NP_001293142.1:p.Pro299Arg
NM_001306214.2:c.896C>G	NP_001293143.1:p.Pro299Arg