Canonical Allele Identifier: CA1291598694
Gene: THSD7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137469945C= , CM000664.2:g.137469945C= GRCh38
NC_000002.11:g.138227515C= , CM000664.1:g.138227515C= GRCh37
NC_000002.10:g.137943985C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409968.6:c.3138+18922C= MANE Select ENSP00000387145.1:n.3138+18922C=
ENST00000272643.7:c.3139+18921C= ENSP00000272643.4:n.3139+18921C=
ENST00000409968.5:c.3138+18922C= ENSP00000387145.1:n.3138+18922C=
ENST00000413152.3:c.3046+18921C= ENSP00000413841.3:n.3046+18921C=
NM_001080427.1:c.3045+18922C= NP_001073896.1:n.3045+18922C=
NM_001316349.1:c.3138+18922C= NP_001303278.1:n.3138+18922C=
XM_017005049.1:c.1341+18922C= XP_016860538.1:n.1341+18922C=
NM_001316349.2:c.3138+18922C= MANE Select NP_001303278.1:n.3138+18922C=