Canonical Allele Identifier: CA526737522

Gene: SELL FIRRM

Linked Data

• dbSNP Id: rs1177029781
• gnomAD v2: 1-169676417-C-A
• gnomAD v3: 1-169707276-C-A
• gnomAD v4: 1-169707276-C-A
• MyVariant Identifiers: chr1:g.169676417C>A (hg19) ; chr1:g.169707276C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707276C>A , CM000663.2:g.169707276C>A	GRCh38
NC_000001.10:g.169676417C>A , CM000663.1:g.169676417C>A	GRCh37
NC_000001.9:g.167943041C>A	NCBI36
NG_016132.1:g.9427G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.580+66G>T (SELL) MANE Select	ENSP00000236147.5:n.580+66G>T
ENST00000650983.1:c.619+66G>T (SELL)	ENSP00000498227.1:n.619+66G>T
ENST00000236147.4:c.619+66G>T (SELL)	ENSP00000236147.4:n.619+66G>T
ENST00000463108.5:n.780+66G>T (SELL)
ENST00000466340.1:n.592+66G>T (SELL)
ENST00000479657.5:n.332+66G>T (SELL)
ENST00000498289.5:n.851+23344C>A (FIRRM)
NM_000655.4:c.619+66G>T (SELL)	NP_000646.2:n.619+66G>T
NR_029467.1:n.548+66G>T (SELL)
NM_000655.5:c.580+66G>T (SELL) MANE Select	NP_000646.3:n.580+66G>T
NR_029467.2:n.549+66G>T (SELL)