Canonical Allele Identifier: CA4807789

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 2080877
• ClinVar RCV Id: RCV003002260
• dbSNP Id: rs181332072
• ExAC: 8:94792995 T / C
• gnomAD v2: 8-94792995-T-C
• gnomAD v3: 8-93780767-T-C
• gnomAD v4: 8-93780767-T-C
• MyVariant Identifiers: chr8:g.94792995T>C (hg19) ; chr8:g.93780767T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780767T>C , CM000670.2:g.93780767T>C	GRCh38
NC_000008.10:g.94792995T>C , CM000670.1:g.94792995T>C	GRCh37
NC_000008.9:g.94862171T>C	NCBI36
NG_009190.1:g.30924T>C , LRG_688:g.30924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323130.8:c.869+20T>C	ENSP00000314488.4:n.869+20T>C
ENST00000409623.8:c.869+20T>C	ENSP00000386966.4:n.869+20T>C
ENST00000452276.6:c.869+20T>C	ENSP00000388671.2:n.869+20T>C
ENST00000453906.6:c.407-5456T>C	ENSP00000403035.2:n.407-5456T>C
ENST00000520680.2:c.869+20T>C	ENSP00000428785.2:n.869+20T>C
ENST00000521065.2:c.*586+20T>C	ENSP00000427947.2:n.*586+20T>C
ENST00000521517.6:c.869+20T>C	ENSP00000430740.2:n.869+20T>C
ENST00000681998.1:c.799+20T>C	ENSP00000506773.1:n.799+20T>C
ENST00000682036.1:c.407-5456T>C	ENSP00000508390.1:n.407-5456T>C
ENST00000682577.1:c.799+20T>C	ENSP00000506963.1:n.799+20T>C
ENST00000682624.1:c.*443+20T>C	ENSP00000508343.1:n.*443+20T>C
ENST00000682700.1:c.869+20T>C	ENSP00000507627.1:n.869+20T>C
ENST00000682744.1:n.407+20T>C
ENST00000682804.1:n.692+20T>C
ENST00000682837.1:c.624+20T>C	ENSP00000507920.1:n.624+20T>C
ENST00000682935.1:n.2429+20T>C
ENST00000682984.1:c.530+20T>C	ENSP00000507209.1:n.530+20T>C
ENST00000683078.1:c.624+20T>C	ENSP00000506796.1:n.624+20T>C
ENST00000683223.1:c.710+20T>C	ENSP00000507685.1:n.710+20T>C
ENST00000683238.1:n.2250+20T>C
ENST00000683249.1:n.2450+20T>C
ENST00000683336.1:c.799+20T>C	ENSP00000507695.1:n.799+20T>C
ENST00000683362.1:c.530+20T>C	ENSP00000506985.1:n.530+20T>C
ENST00000683850.1:n.792+20T>C
ENST00000683919.1:c.799+20T>C	ENSP00000507617.1:n.799+20T>C
ENST00000683953.1:c.780+20T>C	ENSP00000508375.1:n.780+20T>C
ENST00000684023.1:c.1003+20T>C	ENSP00000507461.1:n.1003+20T>C
ENST00000684064.1:c.560+20T>C	ENSP00000508192.1:n.560+20T>C
ENST00000684089.1:n.2419+20T>C
ENST00000684149.1:c.*205+20T>C	ENSP00000507943.1:n.*205+20T>C
ENST00000684416.1:n.828+20T>C
ENST00000684540.1:c.799+20T>C	ENSP00000507987.1:n.799+20T>C
ENST00000453321.8:c.869+20T>C MANE Select	ENSP00000389998.3:n.869+20T>C
ENST00000323130.7:c.839+20T>C	ENSP00000314488.3:n.839+20T>C
ENST00000409623.7:c.626+20T>C	ENSP00000386966.3:n.626+20T>C
ENST00000425545.2:n.316+20T>C
ENST00000452276.5:c.560+20T>C	ENSP00000388671.1:n.560+20T>C
ENST00000453321.7:c.869+20T>C	ENSP00000389998.3:n.869+20T>C
ENST00000453906.5:c.407-5456T>C	ENSP00000403035.1:n.407-5456T>C
ENST00000474944.5:n.427-5456T>C
ENST00000496213.5:n.334+20T>C
NM_001142301.1:c.626+20T>C , LRG_688t2:c.626+20T>C	NP_001135773.1:n.626+20T>C
NM_153704.5:c.869+20T>C , LRG_688t1:c.869+20T>C	NP_714915.3:n.869+20T>C
NR_024522.1:n.940+20T>C
XM_006716686.2:c.566+20T>C	XP_006716749.1:n.566+20T>C
XM_006716687.2:c.269+20T>C	XP_006716750.1:n.269+20T>C
XM_011517363.1:c.407-5456T>C	XP_011515665.1:n.407-5456T>C
XR_428387.1:n.927+20T>C
XR_928360.1:n.927+20T>C
XR_928361.1:n.927+20T>C
XR_928362.1:n.927+20T>C
XM_006716686.4:c.566+20T>C	XP_006716749.1:n.566+20T>C
XM_011517363.3:c.407-5456T>C	XP_011515665.1:n.407-5456T>C
XM_024447326.1:c.215+20T>C	XP_024303094.1:n.215+20T>C
XR_001745619.2:n.910+20T>C
XR_428387.2:n.910+20T>C
XR_928360.3:n.910+20T>C
XR_928362.3:n.910+20T>C
NM_153704.6:c.869+20T>C MANE Select	NP_714915.3:n.869+20T>C
NR_024522.2:n.890+20T>C