Canonical Allele Identifier: CA814381121

Gene: THBS4

Linked Data

• dbSNP Id: rs1422843311
• gnomAD v3: 5-80065359-T-C
• gnomAD v4: 5-80065359-T-C
• MyVariant Identifiers: chr5:g.79361182T>C (hg19) ; chr5:g.80065359T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80065359T>C , CM000667.2:g.80065359T>C	GRCh38
NC_000005.9:g.79361182T>C , CM000667.1:g.79361182T>C	GRCh37
NC_000005.8:g.79396938T>C	NCBI36
NG_047084.1:g.79049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350881.6:c.1126-50T>C MANE Select	ENSP00000339730.2:n.1126-50T>C
ENST00000511733.1:c.853-50T>C	ENSP00000422298.1:n.853-50T>C
NM_001306212.1:c.853-50T>C	NP_001293141.1:n.853-50T>C
NM_001306213.1:c.853-50T>C	NP_001293142.1:n.853-50T>C
NM_001306214.1:c.853-50T>C	NP_001293143.1:n.853-50T>C
NM_003248.4:c.1126-50T>C	NP_003239.2:n.1126-50T>C
NM_003248.5:c.1126-50T>C	NP_003239.2:n.1126-50T>C
XM_017009798.2:c.1126-50T>C	XP_016865287.1:n.1126-50T>C
XM_017009799.2:c.1126-50T>C	XP_016865288.1:n.1126-50T>C
XR_002956176.1:n.1317-50T>C
NM_003248.6:c.1126-50T>C MANE Select	NP_003239.2:n.1126-50T>C
NM_001306212.2:c.853-50T>C	NP_001293141.1:n.853-50T>C
NM_001306213.2:c.853-50T>C	NP_001293142.1:n.853-50T>C
NM_001306214.2:c.853-50T>C	NP_001293143.1:n.853-50T>C