Canonical Allele Identifier: CA1008993150
Gene: FIRRM HGNC NCBI
SELE HGNC NCBI

Linked Data

gnomAD v3: 1-169736950-C-T
gnomAD v4: 1-169736950-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169736950C>T , CM000663.2:g.169736950C>T GRCh38
NC_000001.10:g.169706091C>T , CM000663.1:g.169706091C>T GRCh37
NC_000001.9:g.167972715C>T NCBI36
NG_012124.1:g.2130G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000498289.5:n.852-46861C>T (FIRRM)
ENST00000609271.1:c.-201-2827G>A (SELE) ENSP00000476784.1:n.-201-2827G>A
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