Canonical Allele Identifier: CA857055597

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 2924209
• ClinVar RCV Id: RCV003785959
• dbSNP Id: rs1461079741
• gnomAD v3: 8-93780765-G-C
• gnomAD v4: 8-93780765-G-C
• MyVariant Identifiers: chr8:g.94792993G>C (hg19) ; chr8:g.93780765G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93780765G>C , CM000670.2:g.93780765G>C	GRCh38
NC_000008.10:g.94792993G>C , CM000670.1:g.94792993G>C	GRCh37
NC_000008.9:g.94862169G>C	NCBI36
NG_009190.1:g.30922G>C , LRG_688:g.30922G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.869+18G>C	ENSP00000314488.4:n.869+18G>C
ENST00000409623.8:c.869+18G>C	ENSP00000386966.4:n.869+18G>C
ENST00000452276.6:c.869+18G>C	ENSP00000388671.2:n.869+18G>C
ENST00000453906.6:c.407-5458G>C	ENSP00000403035.2:n.407-5458G>C
ENST00000520680.2:c.869+18G>C	ENSP00000428785.2:n.869+18G>C
ENST00000521065.2:c.*586+18G>C	ENSP00000427947.2:n.*586+18G>C
ENST00000521517.6:c.869+18G>C	ENSP00000430740.2:n.869+18G>C
ENST00000681998.1:c.799+18G>C	ENSP00000506773.1:n.799+18G>C
ENST00000682036.1:c.407-5458G>C	ENSP00000508390.1:n.407-5458G>C
ENST00000682577.1:c.799+18G>C	ENSP00000506963.1:n.799+18G>C
ENST00000682624.1:c.*443+18G>C	ENSP00000508343.1:n.*443+18G>C
ENST00000682700.1:c.869+18G>C	ENSP00000507627.1:n.869+18G>C
ENST00000682744.1:n.407+18G>C
ENST00000682804.1:n.692+18G>C
ENST00000682837.1:c.624+18G>C	ENSP00000507920.1:n.624+18G>C
ENST00000682935.1:n.2429+18G>C
ENST00000682984.1:c.530+18G>C	ENSP00000507209.1:n.530+18G>C
ENST00000683078.1:c.624+18G>C	ENSP00000506796.1:n.624+18G>C
ENST00000683223.1:c.710+18G>C	ENSP00000507685.1:n.710+18G>C
ENST00000683238.1:n.2250+18G>C
ENST00000683249.1:n.2450+18G>C
ENST00000683336.1:c.799+18G>C	ENSP00000507695.1:n.799+18G>C
ENST00000683362.1:c.530+18G>C	ENSP00000506985.1:n.530+18G>C
ENST00000683850.1:n.792+18G>C
ENST00000683919.1:c.799+18G>C	ENSP00000507617.1:n.799+18G>C
ENST00000683953.1:c.780+18G>C	ENSP00000508375.1:n.780+18G>C
ENST00000684023.1:c.1003+18G>C	ENSP00000507461.1:n.1003+18G>C
ENST00000684064.1:c.560+18G>C	ENSP00000508192.1:n.560+18G>C
ENST00000684089.1:n.2419+18G>C
ENST00000684149.1:c.*205+18G>C	ENSP00000507943.1:n.*205+18G>C
ENST00000684416.1:n.828+18G>C
ENST00000684540.1:c.799+18G>C	ENSP00000507987.1:n.799+18G>C
ENST00000453321.8:c.869+18G>C MANE Select	ENSP00000389998.3:n.869+18G>C
ENST00000323130.7:c.839+18G>C	ENSP00000314488.3:n.839+18G>C
ENST00000409623.7:c.626+18G>C	ENSP00000386966.3:n.626+18G>C
ENST00000425545.2:n.316+18G>C
ENST00000452276.5:c.560+18G>C	ENSP00000388671.1:n.560+18G>C
ENST00000453321.7:c.869+18G>C	ENSP00000389998.3:n.869+18G>C
ENST00000453906.5:c.407-5458G>C	ENSP00000403035.1:n.407-5458G>C
ENST00000474944.5:n.427-5458G>C
ENST00000496213.5:n.334+18G>C
NM_001142301.1:c.626+18G>C , LRG_688t2:c.626+18G>C	NP_001135773.1:n.626+18G>C
NM_153704.5:c.869+18G>C , LRG_688t1:c.869+18G>C	NP_714915.3:n.869+18G>C
NR_024522.1:n.940+18G>C
XM_006716686.2:c.566+18G>C	XP_006716749.1:n.566+18G>C
XM_006716687.2:c.269+18G>C	XP_006716750.1:n.269+18G>C
XM_011517363.1:c.407-5458G>C	XP_011515665.1:n.407-5458G>C
XR_428387.1:n.927+18G>C
XR_928360.1:n.927+18G>C
XR_928361.1:n.927+18G>C
XR_928362.1:n.927+18G>C
XM_006716686.4:c.566+18G>C	XP_006716749.1:n.566+18G>C
XM_011517363.3:c.407-5458G>C	XP_011515665.1:n.407-5458G>C
XM_024447326.1:c.215+18G>C	XP_024303094.1:n.215+18G>C
XR_001745619.2:n.910+18G>C
XR_428387.2:n.910+18G>C
XR_928360.3:n.910+18G>C
XR_928362.3:n.910+18G>C
NM_153704.6:c.869+18G>C MANE Select	NP_714915.3:n.869+18G>C
NR_024522.2:n.890+18G>C