Canonical Allele Identifier: CA32487567

Gene: FIRRM SELE

Linked Data

• dbSNP Id: rs568114800
• gnomAD v3: 1-169736939-A-G
• gnomAD v4: 1-169736939-A-G
• MyVariant Identifiers: chr1:g.169706080A>G (hg19) ; chr1:g.169736939A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169736939A>G , CM000663.2:g.169736939A>G	GRCh38
NC_000001.10:g.169706080A>G , CM000663.1:g.169706080A>G	GRCh37
NC_000001.9:g.167972704A>G	NCBI36
NG_012124.1:g.2141T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498289.5:n.852-46872A>G (FIRRM)
ENST00000609271.1:c.-201-2816T>C (SELE)	ENSP00000476784.1:n.-201-2816T>C