Canonical Allele Identifier: CA1036913071

Gene: THSD7B

Linked Data

• dbSNP Id: rs1688062427
• gnomAD v3: 2-137470007-A-T
• gnomAD v4: 2-137470007-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.137470007A>T , CM000664.2:g.137470007A>T	GRCh38
NC_000002.11:g.138227577A>T , CM000664.1:g.138227577A>T	GRCh37
NC_000002.10:g.137944047A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409968.6:c.3138+18984A>T MANE Select	ENSP00000387145.1:n.3138+18984A>T
ENST00000272643.7:c.3139+18983A>T	ENSP00000272643.4:n.3139+18983A>T
ENST00000409968.5:c.3138+18984A>T	ENSP00000387145.1:n.3138+18984A>T
ENST00000413152.3:c.3046+18983A>T	ENSP00000413841.3:n.3046+18983A>T
NM_001080427.1:c.3045+18984A>T	NP_001073896.1:n.3045+18984A>T
NM_001316349.1:c.3138+18984A>T	NP_001303278.1:n.3138+18984A>T
XM_017005049.1:c.1341+18984A>T	XP_016860538.1:n.1341+18984A>T
NM_001316349.2:c.3138+18984A>T MANE Select	NP_001303278.1:n.3138+18984A>T