Canonical Allele Identifier: CA166591538
Gene:

Linked Data

dbSNP Id: rs998046376
gnomAD v2: 7-123946346-G-C
gnomAD v3: 7-124306292-G-C
gnomAD v4: 7-124306292-G-C
MyVariant Identifiers: chr7:g.123946346G>C (hg19) chr7:g.124306292G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.124306292G>C , CM000669.2:g.124306292G>C GRCh38
NC_000007.13:g.123946346G>C , CM000669.1:g.123946346G>C GRCh37
NC_000007.12:g.123733582G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956584.1:n.73-186G>C
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