Canonical Allele Identifier: CA555654972
Gene:

Linked Data

dbSNP Id: rs1422517245
gnomAD v2: 4-149570736-T-A
gnomAD v3: 4-148649584-T-A
gnomAD v4: 4-148649584-T-A
MyVariant Identifiers: chr4:g.149570736T>A (hg19) chr4:g.148649584T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649584T>A , CM000666.2:g.148649584T>A GRCh38
NC_000004.11:g.149570736T>A , CM000666.1:g.149570736T>A GRCh37
NC_000004.10:g.149790186T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939336.1:n.437-30716A>T
XR_001741441.1:n.1745+105000T>A
XR_939336.3:n.2921-30716A>T
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