Canonical Allele Identifier: CA360233483

Gene: THBS4

Linked Data

• dbSNP Id: rs747091903
• gnomAD v2: 5-79361292-A-C
• gnomAD v4: 5-80065469-A-C
• MyVariant Identifiers: chr5:g.79361292A>C (hg19) ; chr5:g.80065469A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80065469A>C , CM000667.2:g.80065469A>C	GRCh38
NC_000005.9:g.79361292A>C , CM000667.1:g.79361292A>C	GRCh37
NC_000005.8:g.79397048A>C	NCBI36
NG_047084.1:g.79159A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350881.6:c.1186A>C MANE Select	ENSP00000339730.2:p.Asn396His
ENST00000511733.1:c.913A>C	ENSP00000422298.1:p.Asn305His
NM_001306212.1:c.913A>C	NP_001293141.1:p.Asn305His
NM_001306213.1:c.913A>C	NP_001293142.1:p.Asn305His
NM_001306214.1:c.913A>C	NP_001293143.1:p.Asn305His
NM_003248.4:c.1186A>C	NP_003239.2:p.Asn396His
NM_003248.5:c.1186A>C	NP_003239.2:p.Asn396His
XM_017009798.2:c.1186A>C	XP_016865287.1:p.Asn396His
XM_017009799.2:c.1186A>C	XP_016865288.1:p.Asn396His
XR_002956176.1:n.1377A>C
NM_003248.6:c.1186A>C MANE Select	NP_003239.2:p.Asn396His
NM_001306212.2:c.913A>C	NP_001293141.1:p.Asn305His
NM_001306213.2:c.913A>C	NP_001293142.1:p.Asn305His
NM_001306214.2:c.913A>C	NP_001293143.1:p.Asn305His