Canonical Allele Identifier: CA4807680

Gene: TMEM67

Linked Data

• ClinVar Variation Id: 262754
• ClinVar RCV Id: RCV000253155 ; RCV000514551 ; RCV001511602 ; RCV002503951
• dbSNP Id: rs138589757
• ExAC: 8:94777615 T / C
• gnomAD v2: 8-94777615-T-C
• gnomAD v3: 8-93765387-T-C
• gnomAD v4: 8-93765387-T-C
• MyVariant Identifiers: chr8:g.94777615T>C (hg19) ; chr8:g.93765387T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93765387T>C , CM000670.2:g.93765387T>C	GRCh38
NC_000008.10:g.94777615T>C , CM000670.1:g.94777615T>C	GRCh37
NC_000008.9:g.94846791T>C	NCBI36
NG_009190.1:g.15544T>C , LRG_688:g.15544T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323130.8:c.507-19T>C	ENSP00000314488.4:n.507-19T>C
ENST00000409623.8:c.507-19T>C	ENSP00000386966.4:n.507-19T>C
ENST00000452276.6:c.507-19T>C	ENSP00000388671.2:n.507-19T>C
ENST00000453906.6:c.406+6811T>C	ENSP00000403035.2:n.406+6811T>C
ENST00000520680.2:c.507-19T>C	ENSP00000428785.2:n.507-19T>C
ENST00000521065.2:c.*224-19T>C	ENSP00000427947.2:n.*224-19T>C
ENST00000521517.6:c.507-19T>C	ENSP00000430740.2:n.507-19T>C
ENST00000681998.1:c.507-185T>C	ENSP00000506773.1:n.507-185T>C
ENST00000682036.1:c.406+6811T>C	ENSP00000508390.1:n.406+6811T>C
ENST00000682577.1:c.507-185T>C	ENSP00000506963.1:n.507-185T>C
ENST00000682624.1:c.*151-185T>C	ENSP00000508343.1:n.*151-185T>C
ENST00000682700.1:c.507-19T>C	ENSP00000507627.1:n.507-19T>C
ENST00000682804.1:n.400-185T>C
ENST00000682837.1:c.406+6811T>C	ENSP00000507920.1:n.406+6811T>C
ENST00000682935.1:n.1952T>C
ENST00000682984.1:c.313-7202T>C	ENSP00000507209.1:n.313-7202T>C
ENST00000683078.1:c.406+6811T>C	ENSP00000506796.1:n.406+6811T>C
ENST00000683223.1:c.418-185T>C	ENSP00000507685.1:n.418-185T>C
ENST00000683238.1:n.1773T>C
ENST00000683249.1:n.1973T>C
ENST00000683336.1:c.507-185T>C	ENSP00000507695.1:n.507-185T>C
ENST00000683362.1:c.313-7202T>C	ENSP00000506985.1:n.313-7202T>C
ENST00000683850.1:n.430-19T>C
ENST00000683919.1:c.507-185T>C	ENSP00000507617.1:n.507-185T>C
ENST00000683953.1:c.418-19T>C	ENSP00000508375.1:n.418-19T>C
ENST00000684023.1:c.641-19T>C	ENSP00000507461.1:n.641-19T>C
ENST00000684064.1:c.198-19T>C	ENSP00000508192.1:n.198-19T>C
ENST00000684089.1:n.1942T>C
ENST00000684149.1:c.507-185T>C	ENSP00000507943.1:n.507-185T>C
ENST00000684416.1:n.466-19T>C
ENST00000684540.1:c.507-185T>C	ENSP00000507987.1:n.507-185T>C
ENST00000453321.8:c.507-19T>C MANE Select	ENSP00000389998.3:n.507-19T>C
ENST00000323130.7:c.477-19T>C	ENSP00000314488.3:n.477-19T>C
ENST00000409623.7:c.264-19T>C	ENSP00000386966.3:n.264-19T>C
ENST00000452276.5:c.198-19T>C	ENSP00000388671.1:n.198-19T>C
ENST00000453321.7:c.507-19T>C	ENSP00000389998.3:n.507-19T>C
ENST00000453906.5:c.406+6811T>C	ENSP00000403035.1:n.406+6811T>C
ENST00000455946.5:c.*179-19T>C	ENSP00000416339.1:n.*179-19T>C
ENST00000474944.5:n.426+6811T>C
ENST00000518319.5:c.27-19T>C	ENSP00000430289.1:n.27-19T>C
ENST00000521065.1:c.413-19T>C
ENST00000521222.5:c.*143-19T>C	ENSP00000429925.1:n.*143-19T>C
ENST00000521517.5:c.499-185T>C
NM_001142301.1:c.264-19T>C , LRG_688t2:c.264-19T>C	NP_001135773.1:n.264-19T>C
NM_153704.5:c.507-19T>C , LRG_688t1:c.507-19T>C	NP_714915.3:n.507-19T>C
NR_024522.1:n.578-19T>C
XM_006716686.2:c.204-19T>C	XP_006716749.1:n.204-19T>C
XM_011517363.1:c.406+6811T>C	XP_011515665.1:n.406+6811T>C
XR_428387.1:n.565-19T>C
XR_928360.1:n.565-19T>C
XR_928361.1:n.565-19T>C
XR_928362.1:n.565-19T>C
XM_006716686.4:c.204-19T>C	XP_006716749.1:n.204-19T>C
XM_011517363.3:c.406+6811T>C	XP_011515665.1:n.406+6811T>C
XM_024447326.1:c.-4+6811T>C	XP_024303094.1:n.-4+6811T>C
XR_001745619.2:n.548-19T>C
XR_428387.2:n.548-19T>C
XR_928360.3:n.548-19T>C
XR_928362.3:n.548-19T>C
NM_153704.6:c.507-19T>C MANE Select	NP_714915.3:n.507-19T>C
NR_024522.2:n.528-19T>C