Canonical Allele Identifier: CA134728042
Gene: OFCC1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.9853686G>T
GRCh37 chr6:g.9853919G>T
gnomAD v2:
6:9853919 G / T
gnomAD v3:
6:9853686 G / T
gnomAD v4:
chr6-9853686-G-T
Joint Max Group AF 0.96974788 (EAS)
Genomes Max Group AF 0.96974788 (EAS)
dbSNP:
4716055
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.9853686G>T , CM000668.2:g.9853686G>T GRCh38
NC_000006.11:g.9853919G>T , CM000668.1:g.9853919G>T GRCh37
NC_000006.10:g.9961905G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000642964.1:n.557-8093C>A
ENST00000460066.5:n.392+54832C>A
ENST00000460363.6:c.344-43972C>A ENSP00000419718.2:n.344-43972C>A
ENST00000469426.5:c.671-3217C>A ENSP00000419759.1:n.671-3217C>A
ENST00000469656.5:c.370-8093C>A
ENST00000486246.5:c.511-3217C>A
ENST00000487015.5:c.305-8093C>A ENSP00000417429.1:n.305-8093C>A
ENST00000492094.6:c.536-8093C>A
ENST00000492169.5:c.291-34262C>A
XM_011515036.1:c.*14-8093C>A XP_011513338.1:n.*14-8093C>A
XM_017011612.1:c.*14-3217C>A XP_016867101.1:n.*14-3217C>A
NR_170155.1:n.730-8093C>A
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