Canonical Allele Identifier: CA526740143
Gene: FIRRM HGNC NCBI
SELE HGNC NCBI

Linked Data

dbSNP Id: rs1196043276
gnomAD v2: 1-169706036-T-G
gnomAD v3: 1-169736895-T-G
gnomAD v4: 1-169736895-T-G
MyVariant Identifiers: chr1:g.169706036T>G (hg19) chr1:g.169736895T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169736895T>G , CM000663.2:g.169736895T>G GRCh38
NC_000001.10:g.169706036T>G , CM000663.1:g.169706036T>G GRCh37
NC_000001.9:g.167972660T>G NCBI36
NG_012124.1:g.2185A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000498289.5:n.852-46916T>G (FIRRM)
ENST00000609271.1:c.-201-2772A>C (SELE) ENSP00000476784.1:n.-201-2772A>C
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