Canonical Allele Identifier: CA306038864
Gene: ABHD8 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.17309480G>C
GRCh37 chr19:g.17420289G>C
gnomAD v2:
19:17420289 G / C
gnomAD v3:
19:17309480 G / C
gnomAD v4:
chr19-17309480-G-C
Joint Max Group AF 0.00025627 (AMR)
Genomes Max Group AF 0.00008881 (AMR)
Exomes Max Group AF 0.00032016 (AMR)
dbSNP:
2303745
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17309480G>C , CM000681.2:g.17309480G>C GRCh38
NC_000019.9:g.17420289G>C , CM000681.1:g.17420289G>C GRCh37
NC_000019.8:g.17281289G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000593489.1:c.40+687C>G ENSP00000468883.1:n.40+687C>G
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