Canonical Allele Identifier: CA786695520
Gene:

Linked Data

dbSNP Id: rs1253190099
gnomAD v3: 4-12578106-G-A
gnomAD v4: 4-12578106-G-A
MyVariant Identifiers: chr4:g.12579730G>A (hg19) chr4:g.12578106G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578106G>A , CM000666.2:g.12578106G>A GRCh38
NC_000004.11:g.12579730G>A , CM000666.1:g.12579730G>A GRCh37
NC_000004.10:g.12188828G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31236C>T
XR_001741374.1:n.254+44549C>T
XR_925406.3:n.140+31236C>T
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