Canonical Allele Identifier: CA343159114

Gene: FIRRM SELE

Linked Data

• dbSNP Id: rs762985743
• gnomAD v2: 1-169706040-C-G
• gnomAD v3: 1-169736899-C-G
• gnomAD v4: 1-169736899-C-G
• MyVariant Identifiers: chr1:g.169706040C>G (hg19) ; chr1:g.169736899C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169736899C>G , CM000663.2:g.169736899C>G	GRCh38
NC_000001.10:g.169706040C>G , CM000663.1:g.169706040C>G	GRCh37
NC_000001.9:g.167972664C>G	NCBI36
NG_012124.1:g.2181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498289.5:n.852-46912C>G (FIRRM)
ENST00000609271.1:c.-201-2776G>C (SELE)	ENSP00000476784.1:n.-201-2776G>C