Canonical Allele Identifier: CA8084044
Gene: SPMIP8 HGNC NCBI
CNGB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2488099
ClinVar RCV Id: RCV004548483
dbSNP Id: rs750317153
ExAC: 16:58010385 G / T
gnomAD v2: 16-58010385-G-T
gnomAD v3: 16-57976481-G-T
gnomAD v4: 16-57976481-G-T
MyVariant Identifiers: chr16:g.58010385G>T (hg19) chr16:g.57976481G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57976481G>T , CM000678.2:g.57976481G>T GRCh38
NC_000016.9:g.58010385G>T , CM000678.1:g.58010385G>T GRCh37
NC_000016.8:g.56567886G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000290871.10:c.-156G>T (SPMIP8) ENSP00000290871.6:n.-156G>T
ENST00000441824.3:c.-156G>T (SPMIP8) ENSP00000401917.3:n.-156G>T
ENST00000290871.9:c.10G>T (SPMIP8) ENSP00000290871.5:p.Val4Phe
ENST00000441824.2:c.10G>T (SPMIP8) ENSP00000401917.2:p.Val4Phe
NM_199046.2:c.10G>T (SPMIP8) NP_950247.2:p.Val4Phe
NM_199456.2:c.10G>T (SPMIP8) NP_955535.2:p.Val4Phe
XM_006721134.2:c.-129+2754C>A (CNGB1) XP_006721197.1:n.-129+2754C>A
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