Canonical Allele Identifier: CA11031236
Gene: THSD7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.136797654T>C , CM000664.2:g.136797654T>C GRCh38
NC_000002.11:g.137555224T>C , CM000664.1:g.137555224T>C GRCh37
NC_000002.10:g.137271694T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409968.6:c.-36+31967T>C MANE Select ENSP00000387145.1:n.-36+31967T>C
ENST00000409968.5:c.-36+31967T>C ENSP00000387145.1:n.-36+31967T>C
ENST00000472720.5:c.-36+31967T>C ENSP00000473349.1:n.-36+31967T>C
NM_001316349.1:c.-36+31967T>C NP_001303278.1:n.-36+31967T>C
NM_001316349.2:c.-36+31967T>C MANE Select NP_001303278.1:n.-36+31967T>C