Canonical Allele Identifier: CA645968090
Gene: FIRRM HGNC NCBI
SELE HGNC NCBI

Linked Data

dbSNP Id: rs1649068130
gnomAD v3: 1-169736968-G-A
gnomAD v4: 1-169736968-G-A
COSMIC: COSN7183635
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169736968G>A , CM000663.2:g.169736968G>A GRCh38
NC_000001.10:g.169706109G>A , CM000663.1:g.169706109G>A GRCh37
NC_000001.9:g.167972733G>A NCBI36
NG_012124.1:g.2112C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000498289.5:n.852-46843G>A (FIRRM)
ENST00000609271.1:c.-201-2845C>T (SELE) ENSP00000476784.1:n.-201-2845C>T
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