Canonical Allele Identifier: CA165579788
Gene:

Linked Data

dbSNP Id: rs1046743307
gnomAD v2: 7-118159472-G-A
gnomAD v3: 7-118519418-G-A
gnomAD v4: 7-118519418-G-A
MyVariant Identifiers: chr7:g.118159472G>A (hg19) chr7:g.118519418G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.118519418G>A , CM000669.2:g.118519418G>A GRCh38
NC_000007.13:g.118159472G>A , CM000669.1:g.118159472G>A GRCh37
NC_000007.12:g.117946708G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_927908.1:n.388+5591G>A
XR_927909.1:n.388+5591G>A
XR_927910.1:n.388+5591G>A
XR_927909.2:n.426+5591G>A
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