Canonical Allele Identifier: CA107971392
Gene:

Linked Data

dbSNP Id: rs546391876
gnomAD v2: 4-149570651-C-A
gnomAD v3: 4-148649499-C-A
gnomAD v4: 4-148649499-C-A
MyVariant Identifiers: chr4:g.149570651C>A (hg19) chr4:g.148649499C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649499C>A , CM000666.2:g.148649499C>A GRCh38
NC_000004.11:g.149570651C>A , CM000666.1:g.149570651C>A GRCh37
NC_000004.10:g.149790101C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939336.1:n.437-30631G>T
XR_001741441.1:n.1745+104915C>A
XR_939336.3:n.2921-30631G>T
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