Canonical Allele Identifier: CA32487621

Gene: FIRRM SELE

Linked Data

• dbSNP Id: rs936014060
• gnomAD v2: 1-169706158-G-C
• gnomAD v3: 1-169737017-G-C
• gnomAD v4: 1-169737017-G-C
• MyVariant Identifiers: chr1:g.169706158G>C (hg19) ; chr1:g.169737017G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169737017G>C , CM000663.2:g.169737017G>C	GRCh38
NC_000001.10:g.169706158G>C , CM000663.1:g.169706158G>C	GRCh37
NC_000001.9:g.167972782G>C	NCBI36
NG_012124.1:g.2063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000498289.5:n.852-46794G>C (FIRRM)
ENST00000609271.1:c.-201-2894C>G (SELE)	ENSP00000476784.1:n.-201-2894C>G