Canonical Allele Identifier: CA360233221

Gene: THBS4

Linked Data

• MyVariant Identifiers: chr5:g.79361241G>C (hg19) ; chr5:g.80065418G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80065418G>C , CM000667.2:g.80065418G>C	GRCh38
NC_000005.9:g.79361241G>C , CM000667.1:g.79361241G>C	GRCh37
NC_000005.8:g.79396997G>C	NCBI36
NG_047084.1:g.79108G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350881.6:c.1135G>C MANE Select	ENSP00000339730.2:p.Asp379His
ENST00000511733.1:c.862G>C	ENSP00000422298.1:p.Asp288His
NM_001306212.1:c.862G>C	NP_001293141.1:p.Asp288His
NM_001306213.1:c.862G>C	NP_001293142.1:p.Asp288His
NM_001306214.1:c.862G>C	NP_001293143.1:p.Asp288His
NM_003248.4:c.1135G>C	NP_003239.2:p.Asp379His
NM_003248.5:c.1135G>C	NP_003239.2:p.Asp379His
XM_017009798.2:c.1135G>C	XP_016865287.1:p.Asp379His
XM_017009799.2:c.1135G>C	XP_016865288.1:p.Asp379His
XR_002956176.1:n.1326G>C
NM_003248.6:c.1135G>C MANE Select	NP_003239.2:p.Asp379His
NM_001306212.2:c.862G>C	NP_001293141.1:p.Asp288His
NM_001306213.2:c.862G>C	NP_001293142.1:p.Asp288His
NM_001306214.2:c.862G>C	NP_001293143.1:p.Asp288His