Canonical Allele Identifier: CA4453822
Gene: TSPAN12 HGNC NCBI

Linked Data

ClinVar Variation Id: 939827
ClinVar RCV Id: RCV001209283
dbSNP Id: rs760786037
ExAC: 7:120428875 A / G
gnomAD v2: 7-120428875-A-G
gnomAD v3: 7-120788821-A-G
gnomAD v4: 7-120788821-A-G
MyVariant Identifiers: chr7:g.120428875A>G (hg19) chr7:g.120788821A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.120788821A>G , CM000669.2:g.120788821A>G GRCh38
NC_000007.13:g.120428875A>G , CM000669.1:g.120428875A>G GRCh37
NC_000007.12:g.120216111A>G NCBI36
NG_023203.1:g.74303T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222747.8:c.689T>C MANE Select ENSP00000222747.3:p.Ile230Thr
ENST00000222747.7:c.689T>C ENSP00000222747.3:p.Ile230Thr
ENST00000415871.5:c.689T>C ENSP00000397699.1:p.Ile230Thr
ENST00000450414.5:c.668T>C ENSP00000397411.1:n.668T>C
NM_012338.3:c.689T>C NP_036470.1:p.Ile230Thr
XM_005250239.1:c.689T>C XP_005250296.1:p.Ile230Thr
XM_011515993.1:c.689T>C XP_011514295.1:p.Ile230Thr
XM_011515994.1:c.689T>C XP_011514296.1:p.Ile230Thr
XM_005250239.3:c.689T>C XP_005250296.1:p.Ile230Thr
XM_017011913.1:c.614T>C XP_016867402.1:p.Ile205Thr
NM_012338.4:c.689T>C MANE Select NP_036470.1:p.Ile230Thr
Search 100 bp 5'
Search 100 bp 3'