Canonical Allele Identifier: CA955200511
Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs1881471504
gnomAD v3: 13-39776628-T-C
gnomAD v4: 13-39776628-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39776628T>C , CM000675.2:g.39776628T>C GRCh38
NC_000013.10:g.40350765T>C , CM000675.1:g.40350765T>C GRCh37
NC_000013.9:g.39248765T>C NCBI36
NG_028352.1:g.126002T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000416691.5:c.1827-11707T>C ENSP00000403733.1:n.1827-11707T>C
NM_001145079.1:c.1827-11707T>C NP_001138551.1:n.1827-11707T>C
NM_001145079.2:c.1827-11707T>C NP_001138551.1:n.1827-11707T>C
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