Canonical Allele Identifier: CA102638101
Gene:

Linked Data

dbSNP Id: rs778243016
gnomAD v2: 4-100395475-T-C
MyVariant Identifiers: chr4:g.100395475T>C (hg19) chr4:g.99474318T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474318T>C , CM000666.2:g.99474318T>C GRCh38
NC_000004.11:g.100395475T>C , CM000666.1:g.100395475T>C GRCh37
NC_000004.10:g.100614498T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.242+2430A>G
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