Canonical Allele Identifier: CA526740147
Gene: FIRRM HGNC NCBI
SELE HGNC NCBI

Linked Data

dbSNP Id: rs1173255554
gnomAD v2: 1-169706119-G-A
gnomAD v3: 1-169736978-G-A
gnomAD v4: 1-169736978-G-A
MyVariant Identifiers: chr1:g.169706119G>A (hg19) chr1:g.169736978G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169736978G>A , CM000663.2:g.169736978G>A GRCh38
NC_000001.10:g.169706119G>A , CM000663.1:g.169706119G>A GRCh37
NC_000001.9:g.167972743G>A NCBI36
NG_012124.1:g.2102C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000498289.5:n.852-46833G>A (FIRRM)
ENST00000609271.1:c.-201-2855C>T (SELE) ENSP00000476784.1:n.-201-2855C>T
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