Canonical Allele Identifier: CA1008993162
Gene: FIRRM HGNC NCBI
SELE HGNC NCBI

Linked Data

dbSNP Id: rs1649067956
gnomAD v3: 1-169736961-G-C
gnomAD v4: 1-169736961-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169736961G>C , CM000663.2:g.169736961G>C GRCh38
NC_000001.10:g.169706102G>C , CM000663.1:g.169706102G>C GRCh37
NC_000001.9:g.167972726G>C NCBI36
NG_012124.1:g.2119C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000498289.5:n.852-46850G>C (FIRRM)
ENST00000609271.1:c.-201-2838C>G (SELE) ENSP00000476784.1:n.-201-2838C>G
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