Canonical Allele Identifier: CA570555676
Gene: AHI1 HGNC NCBI

Linked Data

dbSNP Id: rs1341475649
gnomAD v2: 6-135818914-A-G
gnomAD v4: 6-135497776-A-G
MyVariant Identifiers: chr6:g.135818914A>G (hg19) chr6:g.135497776A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135497776A>G , CM000668.2:g.135497776A>G GRCh38
NC_000006.11:g.135818914A>G , CM000668.1:g.135818914A>G GRCh37
NC_000006.10:g.135860607A>G NCBI36
NG_008643.1:g.4990T>C
NG_008643.2:g.4990T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000680033.1:c.-2292T>C ENSP00000506426.1:n.-2292T>C
ENST00000681022.1:c.-2292T>C ENSP00000505121.1:n.-2292T>C
ENST00000681340.1:c.-481T>C ENSP00000505666.1:n.-481T>C
ENST00000265602.10:c.-395T>C ENSP00000265602.6:n.-395T>C
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