Canonical Allele Identifier: CA4807931

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 972688
• ClinVar RCV Id: RCV001248780 ; RCV001310634 ; RCV003120506
• dbSNP Id: rs386834183
• ExAC: 8:94798484 G / A
• gnomAD v2: 8-94798484-G-A
• gnomAD v3: 8-93786256-G-A
• gnomAD v4: 8-93786256-G-A
• MyVariant Identifiers: chr8:g.94798484G>A (hg19) ; chr8:g.93786256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93786256G>A , CM000670.2:g.93786256G>A	GRCh38
NC_000008.10:g.94798484G>A , CM000670.1:g.94798484G>A	GRCh37
NC_000008.9:g.94867660G>A	NCBI36
NG_009190.1:g.36413G>A , LRG_688:g.36413G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.1322G>A	ENSP00000314488.4:p.Arg441His
ENST00000409623.8:c.1289-12G>A	ENSP00000386966.4:n.1289-12G>A
ENST00000452276.6:c.1322G>A	ENSP00000388671.2:p.Arg441His
ENST00000453906.6:c.440G>A	ENSP00000403035.2:p.Arg147His
ENST00000520680.2:c.1322G>A	ENSP00000428785.2:p.Arg441His
ENST00000521517.6:c.1322G>A	ENSP00000430740.2:p.Arg441His
ENST00000681998.1:c.1143G>A	ENSP00000506773.1:n.1143G>A
ENST00000682036.1:c.440G>A	ENSP00000508390.1:p.Arg147His
ENST00000682577.1:c.1095G>A	ENSP00000506963.1:n.1095G>A
ENST00000682624.1:c.*896G>A	ENSP00000508343.1:n.*896G>A
ENST00000682700.1:c.1322G>A	ENSP00000507627.1:p.Arg441His
ENST00000682744.1:n.860G>A
ENST00000682804.1:n.1145G>A
ENST00000682837.1:c.811G>A	ENSP00000507920.1:n.811G>A
ENST00000682935.1:n.3372G>A
ENST00000682984.1:c.983G>A	ENSP00000507209.1:p.Arg328His
ENST00000683078.1:c.1077G>A	ENSP00000506796.1:n.1077G>A
ENST00000683223.1:c.1054G>A	ENSP00000507685.1:n.1054G>A
ENST00000683238.1:n.2546G>A
ENST00000683249.1:n.2919G>A
ENST00000683336.1:c.1143G>A	ENSP00000507695.1:n.1143G>A
ENST00000683362.1:c.983G>A	ENSP00000506985.1:p.Arg328His
ENST00000683850.1:n.1245G>A
ENST00000683919.1:c.1252G>A	ENSP00000507617.1:n.1252G>A
ENST00000683953.1:c.1233G>A	ENSP00000508375.1:n.1233G>A
ENST00000684023.1:c.1299G>A	ENSP00000507461.1:n.1299G>A
ENST00000684064.1:c.1013G>A	ENSP00000508192.1:p.Arg338His
ENST00000684089.1:n.2872G>A
ENST00000684149.1:c.*501G>A	ENSP00000507943.1:n.*501G>A
ENST00000684416.1:n.1281G>A
ENST00000684540.1:c.1252G>A	ENSP00000507987.1:n.1252G>A
ENST00000453321.8:c.1322G>A MANE Select	ENSP00000389998.3:p.Arg441His
ENST00000323130.7:c.1292G>A	ENSP00000314488.3:p.Arg431His
ENST00000409623.7:c.1079G>A	ENSP00000386966.3:p.Arg360His
ENST00000452276.5:c.1013G>A	ENSP00000388671.1:p.Arg338His
ENST00000453321.7:c.1322G>A	ENSP00000389998.3:p.Arg441His
ENST00000453906.5:c.440G>A	ENSP00000403035.1:p.Arg147His
ENST00000474944.5:n.460G>A
ENST00000520680.1:c.144G>A
NM_001142301.1:c.1079G>A , LRG_688t2:c.1079G>A	NP_001135773.1:p.Arg360His
NM_153704.5:c.1322G>A , LRG_688t1:c.1322G>A	NP_714915.3:p.Arg441His
NR_024522.1:n.1393G>A
XM_006716686.2:c.1019G>A	XP_006716749.1:p.Arg340His
XM_006716687.2:c.722G>A	XP_006716750.1:p.Arg241His
XM_011517363.1:c.440G>A	XP_011515665.1:p.Arg147His
XR_428387.1:n.1380G>A
XR_928360.1:n.1380G>A
XR_928361.1:n.1380G>A
XR_928362.1:n.1380G>A
XM_006716686.4:c.1019G>A	XP_006716749.1:p.Arg340His
XM_011517363.3:c.440G>A	XP_011515665.1:p.Arg147His
XM_024447326.1:c.668G>A	XP_024303094.1:p.Arg223His
XR_001745619.2:n.1363G>A
XR_428387.2:n.1363G>A
XR_928360.3:n.1363G>A
XR_928362.3:n.1363G>A
NM_153704.6:c.1322G>A MANE Select	NP_714915.3:p.Arg441His
NR_024522.2:n.1343G>A