Canonical Allele Identifier: CA551358252
Gene:

Linked Data

dbSNP Id: rs1211909765
gnomAD v2: 4-55094494-G-C
gnomAD v3: 4-54228327-G-C
gnomAD v4: 4-54228327-G-C
MyVariant Identifiers: chr4:g.55094494G>C (hg19) chr4:g.54228327G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228327G>C , CM000666.2:g.54228327G>C GRCh38
NC_000004.11:g.55094494G>C , CM000666.1:g.55094494G>C GRCh37
NC_000004.10:g.54789251G>C NCBI36
NG_009250.1:g.4231G>C , LRG_309:g.4231G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46598G>C ENSP00000423325.1:n.1018-46598G>C
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