Canonical Allele Identifier: CA171706393
Gene:

Linked Data

dbSNP Id: rs984187721
gnomAD v2: 8-5764684-C-A
gnomAD v3: 8-5907162-C-A
gnomAD v4: 8-5907162-C-A
MyVariant Identifiers: chr8:g.5764684C>A (hg19) chr8:g.5907162C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907162C>A , CM000670.2:g.5907162C>A GRCh38
NC_000008.10:g.5764684C>A , CM000670.1:g.5764684C>A GRCh37
NC_000008.9:g.5752092C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-7431G>T
XR_941375.1:n.308-7431G>T
XR_941376.1:n.406-7431G>T
XR_941377.1:n.308-7431G>T
XR_941378.1:n.216-7431G>T
XR_001745765.1:n.308-7431G>T
XR_001745766.1:n.406-7431G>T
XR_001745767.1:n.216-7431G>T
XR_001745768.1:n.308-7431G>T
XR_941374.2:n.308-7431G>T
XR_941375.2:n.308-7431G>T
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