Canonical Allele Identifier: CA890966411

Gene: FIRRM SELE

Linked Data

• dbSNP Id: rs1181758465
• gnomAD v3: 1-169736874-T-C
• gnomAD v4: 1-169736874-T-C
• MyVariant Identifiers: chr1:g.169706015T>C (hg19) ; chr1:g.169736874T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169736874T>C , CM000663.2:g.169736874T>C	GRCh38
NC_000001.10:g.169706015T>C , CM000663.1:g.169706015T>C	GRCh37
NC_000001.9:g.167972639T>C	NCBI36
NG_012124.1:g.2206A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498289.5:n.852-46937T>C (FIRRM)
ENST00000609271.1:c.-201-2751A>G (SELE)	ENSP00000476784.1:n.-201-2751A>G