Canonical Allele Identifier: CA360233374

Gene: THBS4

Linked Data

• MyVariant Identifiers: chr5:g.79361268T>C (hg19) ; chr5:g.80065445T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80065445T>C , CM000667.2:g.80065445T>C	GRCh38
NC_000005.9:g.79361268T>C , CM000667.1:g.79361268T>C	GRCh37
NC_000005.8:g.79397024T>C	NCBI36
NG_047084.1:g.79135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350881.6:c.1162T>C MANE Select	ENSP00000339730.2:p.Cys388Arg
ENST00000511733.1:c.889T>C	ENSP00000422298.1:p.Cys297Arg
NM_001306212.1:c.889T>C	NP_001293141.1:p.Cys297Arg
NM_001306213.1:c.889T>C	NP_001293142.1:p.Cys297Arg
NM_001306214.1:c.889T>C	NP_001293143.1:p.Cys297Arg
NM_003248.4:c.1162T>C	NP_003239.2:p.Cys388Arg
NM_003248.5:c.1162T>C	NP_003239.2:p.Cys388Arg
XM_017009798.2:c.1162T>C	XP_016865287.1:p.Cys388Arg
XM_017009799.2:c.1162T>C	XP_016865288.1:p.Cys388Arg
XR_002956176.1:n.1353T>C
NM_003248.6:c.1162T>C MANE Select	NP_003239.2:p.Cys388Arg
NM_001306212.2:c.889T>C	NP_001293141.1:p.Cys297Arg
NM_001306213.2:c.889T>C	NP_001293142.1:p.Cys297Arg
NM_001306214.2:c.889T>C	NP_001293143.1:p.Cys297Arg