Canonical Allele Identifier: CA32487502
Gene: FIRRM HGNC NCBI
SELE HGNC NCBI

Linked Data

dbSNP Id: rs566437327
gnomAD v2: 1-169705993-G-T
gnomAD v3: 1-169736852-G-T
gnomAD v4: 1-169736852-G-T
MyVariant Identifiers: chr1:g.169705993G>T (hg19) chr1:g.169736852G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169736852G>T , CM000663.2:g.169736852G>T GRCh38
NC_000001.10:g.169705993G>T , CM000663.1:g.169705993G>T GRCh37
NC_000001.9:g.167972617G>T NCBI36
NG_012124.1:g.2228C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000498289.5:n.852-46959G>T (FIRRM)
ENST00000609271.1:c.-201-2729C>A (SELE) ENSP00000476784.1:n.-201-2729C>A
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