Canonical Allele Identifier: CA4453780

Gene: TSPAN12

Linked Data

• ClinVar Variation Id: 1900673
• ClinVar RCV Id: RCV002585814
• dbSNP Id: rs764925169
• ExAC: 7:120428667 G / T
• gnomAD v2: 7-120428667-G-T
• gnomAD v4: 7-120788613-G-T
• MyVariant Identifiers: chr7:g.120428667G>T (hg19) ; chr7:g.120788613G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120788613G>T , CM000669.2:g.120788613G>T	GRCh38
NC_000007.13:g.120428667G>T , CM000669.1:g.120428667G>T	GRCh37
NC_000007.12:g.120215903G>T	NCBI36
NG_023203.1:g.74511C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222747.8:c.897C>A MANE Select	ENSP00000222747.3:p.His299Gln
ENST00000222747.7:c.897C>A	ENSP00000222747.3:p.His299Gln
ENST00000415871.5:c.897C>A	ENSP00000397699.1:p.His299Gln
ENST00000450414.5:c.876C>A	ENSP00000397411.1:n.876C>A
NM_012338.3:c.897C>A	NP_036470.1:p.His299Gln
XM_005250239.1:c.897C>A	XP_005250296.1:p.His299Gln
XM_011515993.1:c.897C>A	XP_011514295.1:p.His299Gln
XM_011515994.1:c.897C>A	XP_011514296.1:p.His299Gln
XM_005250239.3:c.897C>A	XP_005250296.1:p.His299Gln
XM_017011913.1:c.822C>A	XP_016867402.1:p.His274Gln
NM_012338.4:c.897C>A MANE Select	NP_036470.1:p.His299Gln