Canonical Allele Identifier: CA2578348287

Gene: THBS4

Linked Data

• gnomAD v4: 5-80065500-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80065500G>A , CM000667.2:g.80065500G>A	GRCh38
NC_000005.9:g.79361323G>A , CM000667.1:g.79361323G>A	GRCh37
NC_000005.8:g.79397079G>A	NCBI36
NG_047084.1:g.79190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350881.6:c.1194+23G>A MANE Select	ENSP00000339730.2:n.1194+23G>A
ENST00000511733.1:c.921+23G>A	ENSP00000422298.1:n.921+23G>A
NM_001306212.1:c.921+23G>A	NP_001293141.1:n.921+23G>A
NM_001306213.1:c.921+23G>A	NP_001293142.1:n.921+23G>A
NM_001306214.1:c.921+23G>A	NP_001293143.1:n.921+23G>A
NM_003248.4:c.1194+23G>A	NP_003239.2:n.1194+23G>A
NM_003248.5:c.1194+23G>A	NP_003239.2:n.1194+23G>A
XM_017009798.2:c.1194+23G>A	XP_016865287.1:n.1194+23G>A
XM_017009799.2:c.1194+23G>A	XP_016865288.1:n.1194+23G>A
XR_002956176.1:n.1385+23G>A
NM_003248.6:c.1194+23G>A MANE Select	NP_003239.2:n.1194+23G>A
NM_001306212.2:c.921+23G>A	NP_001293141.1:n.921+23G>A
NM_001306213.2:c.921+23G>A	NP_001293142.1:n.921+23G>A
NM_001306214.2:c.921+23G>A	NP_001293143.1:n.921+23G>A