Canonical Allele Identifier: CA553112498
Gene:

Linked Data

dbSNP Id: rs893951891
gnomAD v2: 4-100395556-C-G
gnomAD v3: 4-99474399-C-G
gnomAD v4: 4-99474399-C-G
MyVariant Identifiers: chr4:g.100395556C>G (hg19) chr4:g.99474399C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474399C>G , CM000666.2:g.99474399C>G GRCh38
NC_000004.11:g.100395556C>G , CM000666.1:g.100395556C>G GRCh37
NC_000004.10:g.100614579C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.242+2349G>C
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