Canonical Allele Identifier: CA12581042
Gene: THSD7A HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.11637067C>A
GRCh37 chr7:g.11676694C>A
gnomAD v2:
7:11676694 C / A
gnomAD v3:
7:11637067 C / A
gnomAD v4:
chr7-11637067-C-A
Joint Max Group AF 0.47539318 (EAS)
Genomes Max Group AF 0.46663339 (AFR)
Exomes Max Group AF 0.47799325 (EAS)
dbSNP:
2074597
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.11637067C>A , CM000669.2:g.11637067C>A GRCh38
NC_000007.13:g.11676694C>A , CM000669.1:g.11676694C>A GRCh37
NC_000007.12:g.11643219C>A NCBI36
NG_027670.1:g.200131G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000423059.9:c.191-106G>T MANE Select ENSP00000406482.2:n.191-106G>T
ENST00000423059.8:c.191-106G>T ENSP00000406482.2:n.191-106G>T
ENST00000480061.1:n.218-106G>T
ENST00000617773.1:c.191-106G>T ENSP00000481440.1:n.191-106G>T
NM_015204.2:c.191-106G>T NP_056019.1:n.191-106G>T
XM_006715659.1:c.191-106G>T XP_006715722.1:n.191-106G>T
XM_006715660.1:c.191-106G>T XP_006715723.1:n.191-106G>T
XM_006715661.2:c.191-106G>T XP_006715724.1:n.191-106G>T
XM_006715662.1:c.191-106G>T XP_006715725.1:n.191-106G>T
XM_011515193.1:c.-17-106G>T XP_011513495.1:n.-17-106G>T
XM_011515194.1:c.-17-106G>T XP_011513496.1:n.-17-106G>T
XM_011515195.1:c.191-106G>T XP_011513497.1:n.191-106G>T
XM_011515193.3:c.-17-106G>T XP_011513495.1:n.-17-106G>T
XR_001744589.1:n.442-106G>T
NM_015204.3:c.191-106G>T MANE Select NP_056019.1:n.191-106G>T
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