Canonical Allele Identifier: CA890966418

Gene: FIRRM SELE

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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