Canonical Allele Identifier: CA3324122

Gene: THBS4

Linked Data

• dbSNP Id: rs780131933
• ExAC: 5:79361285 C / A
• gnomAD v2: 5-79361285-C-A
• gnomAD v3: 5-80065462-C-A
• gnomAD v4: 5-80065462-C-A
• MyVariant Identifiers: chr5:g.79361285C>A (hg19) ; chr5:g.80065462C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80065462C>A , CM000667.2:g.80065462C>A	GRCh38
NC_000005.9:g.79361285C>A , CM000667.1:g.79361285C>A	GRCh37
NC_000005.8:g.79397041C>A	NCBI36
NG_047084.1:g.79152C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350881.6:c.1179C>A MANE Select	ENSP00000339730.2:p.Ile393=
ENST00000511733.1:c.906C>A	ENSP00000422298.1:p.Ile302=
NM_001306212.1:c.906C>A	NP_001293141.1:p.Ile302=
NM_001306213.1:c.906C>A	NP_001293142.1:p.Ile302=
NM_001306214.1:c.906C>A	NP_001293143.1:p.Ile302=
NM_003248.4:c.1179C>A	NP_003239.2:p.Ile393=
NM_003248.5:c.1179C>A	NP_003239.2:p.Ile393=
XM_017009798.2:c.1179C>A	XP_016865287.1:p.Ile393=
XM_017009799.2:c.1179C>A	XP_016865288.1:p.Ile393=
XR_002956176.1:n.1370C>A
NM_003248.6:c.1179C>A MANE Select	NP_003239.2:p.Ile393=
NM_001306212.2:c.906C>A	NP_001293141.1:p.Ile302=
NM_001306213.2:c.906C>A	NP_001293142.1:p.Ile302=
NM_001306214.2:c.906C>A	NP_001293143.1:p.Ile302=