Canonical Allele Identifier: CA3709535
Gene: CCHCR1 HGNC NCBI
COSMIC:
COSM3761840 (not active)
MyVariant.info:
GRCh38 chr6:g.31157072C>T
GRCh37 chr6:g.31124849C>T
gnomAD v2:
6:31124849 C / T
gnomAD v3:
6:31157072 C / T
gnomAD v4:
chr6-31157072-C-T
Joint Max Group AF 0.50941015 (MID)
Genomes Max Group AF 0.50184532 (AMR)
Exomes Max Group AF 0.50735909 (MID)
dbSNP:
3130453
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31157072C>T , CM000668.2:g.31157072C>T GRCh38
NC_000006.11:g.31124849C>T , CM000668.1:g.31124849C>T GRCh37
NC_000006.10:g.31232828C>T NCBI36
NG_054878.1:g.6167G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396268.8:c.234G>A MANE Select ENSP00000379566.3:p.Trp78Ter
ENST00000652427.1:c.-34G>A ENSP00000498342.1:n.-34G>A
ENST00000652535.1:c.-34G>A ENSP00000498479.1:n.-34G>A
ENST00000376266.9:c.-34G>A ENSP00000365442.5:n.-34G>A
ENST00000396263.6:c.-34G>A ENSP00000379561.2:n.-34G>A
ENST00000396268.7:c.234G>A ENSP00000379566.3:p.Trp78Ter
ENST00000426967.5:c.261G>A ENSP00000402432.1:p.Trp87Ter
ENST00000428174.1:c.-34G>A ENSP00000389303.1:n.-34G>A
ENST00000448141.6:c.-34G>A ENSP00000414323.2:n.-34G>A
ENST00000448162.6:c.-34G>A ENSP00000390027.2:n.-34G>A
ENST00000451521.6:c.234G>A ENSP00000401039.2:p.Trp78Ter
ENST00000455279.6:c.-34G>A ENSP00000398715.2:n.-34G>A
ENST00000475684.2:n.24G>A
ENST00000480060.5:n.43G>A
ENST00000488920.2:c.*57G>A ENSP00000422000.1:n.*57G>A
ENST00000502557.5:c.-34G>A ENSP00000425377.1:n.-34G>A
ENST00000503420.5:c.-34G>A ENSP00000421992.1:n.-34G>A
ENST00000503934.5:c.-34G>A ENSP00000425595.1:n.-34G>A
ENST00000505392.5:n.46G>A
ENST00000506831.1:c.-34G>A ENSP00000425435.1:n.-34G>A
ENST00000507226.1:c.-34G>A ENSP00000424335.1:n.-34G>A
ENST00000507459.5:c.-34G>A ENSP00000421523.1:n.-34G>A
ENST00000507751.5:c.-34G>A ENSP00000420941.1:n.-34G>A
ENST00000507829.5:c.-34G>A ENSP00000420911.1:n.-34G>A
ENST00000507892.1:c.-34G>A ENSP00000424164.1:n.-34G>A
ENST00000508683.5:c.-34G>A ENSP00000421393.1:n.-34G>A
ENST00000508852.5:c.-34G>A ENSP00000422503.1:n.-34G>A
ENST00000509552.5:n.108G>A
ENST00000512418.5:c.-34G>A ENSP00000426883.1:n.-34G>A
ENST00000513222.1:c.-62-128G>A ENSP00000425682.1:n.-62-128G>A
NM_001105563.1:c.234G>A NP_001099033.1:p.Trp78Ter
NM_001105564.1:c.234G>A NP_001099034.1:p.Trp78Ter
NM_019052.3:c.-34G>A NP_061925.2:n.-34G>A
XM_011514702.1:c.261G>A XP_011513004.1:p.Trp87Ter
XM_011514703.1:c.-34G>A XP_011513005.1:n.-34G>A
XM_011514704.1:c.-34G>A XP_011513006.1:n.-34G>A
XM_011514705.1:c.-34G>A XP_011513007.1:n.-34G>A
XM_011514706.1:c.-34G>A XP_011513008.1:n.-34G>A
XM_011514702.2:c.261G>A XP_011513004.1:p.Trp87Ter
XM_011514704.3:c.-34G>A XP_011513006.1:n.-34G>A
XM_017010961.1:c.261G>A XP_016866450.1:p.Trp87Ter
XM_017010962.2:c.-34G>A XP_016866451.1:n.-34G>A
XM_017010963.1:c.-34G>A XP_016866452.1:n.-34G>A
XM_017010964.1:c.-34G>A XP_016866453.1:n.-34G>A
XM_017010965.1:c.-34G>A XP_016866454.1:n.-34G>A
XM_017010966.1:c.-34G>A XP_016866455.1:n.-34G>A
XM_017010967.1:c.-34G>A XP_016866456.1:n.-34G>A
XM_017010968.1:c.-34G>A XP_016866457.1:n.-34G>A
XM_017010969.1:c.-34G>A XP_016866458.1:n.-34G>A
XM_017010970.1:c.-558G>A XP_016866459.1:n.-558G>A
XM_024446473.1:c.-34G>A XP_024302241.1:n.-34G>A
NM_019052.4:c.-34G>A NP_061925.2:n.-34G>A
NM_001105563.2:c.234G>A NP_001099033.1:p.Trp78Ter
NM_001105563.3:c.234G>A NP_001099033.1:p.Trp78Ter
NM_001105564.2:c.234G>A MANE Select NP_001099034.1:p.Trp78Ter
NM_001394641.1:c.261G>A NP_001381570.1:p.Trp87Ter
NM_001394642.1:c.-34G>A NP_001381571.1:n.-34G>A
NM_001394643.1:c.-34G>A NP_001381572.1:n.-34G>A
NM_001394644.1:c.-34G>A NP_001381573.1:n.-34G>A
NM_001394646.1:c.-34G>A NP_001381575.1:n.-34G>A
NM_001394647.1:c.-62-128G>A NP_001381576.1:n.-62-128G>A
NM_001394648.1:c.-34G>A NP_001381577.1:n.-34G>A
NM_001394649.1:c.-128+1095G>A NP_001381578.1:n.-128+1095G>A
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