Canonical Allele Identifier: CA796265836
Gene:

Linked Data

dbSNP Id: rs1414450936
MyVariant Identifiers: chr4:g.55094720T>C (hg19) chr4:g.54228553T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54228553T>C , CM000666.2:g.54228553T>C GRCh38
NC_000004.11:g.55094720T>C , CM000666.1:g.55094720T>C GRCh37
NC_000004.10:g.54789477T>C NCBI36
NG_009250.1:g.4457T>C , LRG_309:g.4457T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000507166.5:c.1018-46372T>C ENSP00000423325.1:n.1018-46372T>C
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