Canonical Allele Identifier: CA445123622
Gene: THBS4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.79361267G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80065444G>T , CM000667.2:g.80065444G>T GRCh38
NC_000005.9:g.79361267G>T , CM000667.1:g.79361267G>T GRCh37
NC_000005.8:g.79397023G>T NCBI36
NG_047084.1:g.79134G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000350881.6:c.1161G>T MANE Select ENSP00000339730.2:p.Ala387=
ENST00000511733.1:c.888G>T ENSP00000422298.1:p.Ala296=
NM_001306212.1:c.888G>T NP_001293141.1:p.Ala296=
NM_001306213.1:c.888G>T NP_001293142.1:p.Ala296=
NM_001306214.1:c.888G>T NP_001293143.1:p.Ala296=
NM_003248.4:c.1161G>T NP_003239.2:p.Ala387=
NM_003248.5:c.1161G>T NP_003239.2:p.Ala387=
XM_017009798.2:c.1161G>T XP_016865287.1:p.Ala387=
XM_017009799.2:c.1161G>T XP_016865288.1:p.Ala387=
XR_002956176.1:n.1352G>T
NM_003248.6:c.1161G>T MANE Select NP_003239.2:p.Ala387=
NM_001306212.2:c.888G>T NP_001293141.1:p.Ala296=
NM_001306213.2:c.888G>T NP_001293142.1:p.Ala296=
NM_001306214.2:c.888G>T NP_001293143.1:p.Ala296=