Canonical Allele Identifier: CA93117896
Gene:

Linked Data

dbSNP Id: rs1017028097
gnomAD v3: 4-12578100-G-C
gnomAD v4: 4-12578100-G-C
MyVariant Identifiers: chr4:g.12579724G>C (hg19) chr4:g.12578100G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578100G>C , CM000666.2:g.12578100G>C GRCh38
NC_000004.11:g.12579724G>C , CM000666.1:g.12579724G>C GRCh37
NC_000004.10:g.12188822G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31242C>G
XR_001741374.1:n.254+44555C>G
XR_925406.3:n.140+31242C>G
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