Canonical Allele Identifier: CA890966424
Gene: FIRRM HGNC NCBI
SELE HGNC NCBI

Linked Data

dbSNP Id: rs1348477387
gnomAD v3: 1-169736966-G-C
gnomAD v4: 1-169736966-G-C
MyVariant Identifiers: chr1:g.169706107G>C (hg19) chr1:g.169736966G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169736966G>C , CM000663.2:g.169736966G>C GRCh38
NC_000001.10:g.169706107G>C , CM000663.1:g.169706107G>C GRCh37
NC_000001.9:g.167972731G>C NCBI36
NG_012124.1:g.2114C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000498289.5:n.852-46845G>C (FIRRM)
ENST00000609271.1:c.-201-2843C>G (SELE) ENSP00000476784.1:n.-201-2843C>G
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