Canonical Allele Identifier: CA757574440
Gene: THSD7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.137384594G>T , CM000664.2:g.137384594G>T GRCh38
NC_000002.11:g.138142164G>T , CM000664.1:g.138142164G>T GRCh37
NC_000002.10:g.137858634G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409968.6:c.2501-21019G>T MANE Select ENSP00000387145.1:n.2501-21019G>T
ENST00000272643.7:c.2501-21019G>T ENSP00000272643.4:n.2501-21019G>T
ENST00000409968.5:c.2501-21019G>T ENSP00000387145.1:n.2501-21019G>T
ENST00000413152.3:c.2408-21019G>T ENSP00000413841.3:n.2408-21019G>T
NM_001080427.1:c.2408-21019G>T NP_001073896.1:n.2408-21019G>T
NM_001316349.1:c.2501-21019G>T NP_001303278.1:n.2501-21019G>T
XM_017005049.1:c.704-21019G>T XP_016860538.1:n.704-21019G>T
NM_001316349.2:c.2501-21019G>T MANE Select NP_001303278.1:n.2501-21019G>T