Canonical Allele Identifier: CA148130556
Gene: AHI1 HGNC NCBI
AHI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs375390464
gnomAD v2: 6-135818980-C-A
gnomAD v3: 6-135497842-C-A
gnomAD v4: 6-135497842-C-A
MyVariant Identifiers: chr6:g.135818980C>A (hg19) chr6:g.135497842C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135497842C>A , CM000668.2:g.135497842C>A GRCh38
NC_000006.11:g.135818980C>A , CM000668.1:g.135818980C>A GRCh37
NC_000006.10:g.135860673C>A NCBI36
NG_008643.1:g.4924G>T
NG_008643.2:g.4924G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000680033.1:c.-2358G>T (AHI1) ENSP00000506426.1:n.-2358G>T
ENST00000681022.1:c.-2358G>T (AHI1) ENSP00000505121.1:n.-2358G>T
NR_026805.1:n.42C>A (AHI1-DT)
NR_152842.1:n.42C>A (AHI1-DT)
NR_152843.1:n.42C>A (AHI1-DT)
NR_152844.1:n.42C>A (AHI1-DT)
NR_152845.1:n.42C>A (AHI1-DT)
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