Canonical Allele Identifier: CA890966412

Gene: FIRRM SELE

Linked Data

• dbSNP Id: rs1458310163
• gnomAD v3: 1-169736885-C-T
• gnomAD v4: 1-169736885-C-T
• MyVariant Identifiers: chr1:g.169706026C>T (hg19) ; chr1:g.169736885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169736885C>T , CM000663.2:g.169736885C>T	GRCh38
NC_000001.10:g.169706026C>T , CM000663.1:g.169706026C>T	GRCh37
NC_000001.9:g.167972650C>T	NCBI36
NG_012124.1:g.2195G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498289.5:n.852-46926C>T (FIRRM)
ENST00000609271.1:c.-201-2762G>A (SELE)	ENSP00000476784.1:n.-201-2762G>A