Canonical Allele Identifier: CA1291598731
Gene: THSD7B HGNC NCBI

Linked Data

dbSNP Id: rs1688062633

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137470034A>C , CM000664.2:g.137470034A>C GRCh38
NC_000002.11:g.138227604A>C , CM000664.1:g.138227604A>C GRCh37
NC_000002.10:g.137944074A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409968.6:c.3138+19011A>C MANE Select ENSP00000387145.1:n.3138+19011A>C
ENST00000272643.7:c.3139+19010A>C ENSP00000272643.4:n.3139+19010A>C
ENST00000409968.5:c.3138+19011A>C ENSP00000387145.1:n.3138+19011A>C
ENST00000413152.3:c.3046+19010A>C ENSP00000413841.3:n.3046+19010A>C
NM_001080427.1:c.3045+19011A>C NP_001073896.1:n.3045+19011A>C
NM_001316349.1:c.3138+19011A>C NP_001303278.1:n.3138+19011A>C
XM_017005049.1:c.1341+19011A>C XP_016860538.1:n.1341+19011A>C
NM_001316349.2:c.3138+19011A>C MANE Select NP_001303278.1:n.3138+19011A>C