Canonical Allele Identifier: CA257451158
Gene:

Linked Data

dbSNP Id: rs575675406
gnomAD v2: 14-21261566-C-A
gnomAD v3: 14-20793407-C-A
gnomAD v4: 14-20793407-C-A
MyVariant Identifiers: chr14:g.21261566C>A (hg19) chr14:g.20793407C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793407C>A , CM000676.2:g.20793407C>A GRCh38
NC_000014.8:g.21261566C>A , CM000676.1:g.21261566C>A GRCh37
NC_000014.7:g.20331406C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943584.1:n.585+621C>A
XR_943585.1:n.585+621C>A
XR_001750620.1:n.3271+621C>A
XR_001750621.1:n.3271+621C>A
XR_001750622.1:n.637+6497G>T
XR_001750623.1:n.637+6497G>T
XR_001750624.1:n.637+6497G>T
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