Canonical Allele Identifier: CA1235764

Gene: SELL FIRRM

Linked Data

• ClinVar Variation Id: 2245359
• ClinVar RCV Id: RCV004104273
• dbSNP Id: rs574798676
• ExAC: 1:169676485 A / T
• gnomAD v2: 1-169676485-A-T
• gnomAD v3: 1-169707344-A-T
• gnomAD v4: 1-169707344-A-T
• MyVariant Identifiers: chr1:g.169676485A>T (hg19) ; chr1:g.169707344A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707344A>T , CM000663.2:g.169707344A>T	GRCh38
NC_000001.10:g.169676485A>T , CM000663.1:g.169676485A>T	GRCh37
NC_000001.9:g.167943109A>T	NCBI36
NG_016132.1:g.9359T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.578T>A (SELL) MANE Select	ENSP00000236147.5:p.Phe193Tyr
ENST00000650983.1:c.617T>A (SELL)	ENSP00000498227.1:p.Phe206Tyr
ENST00000236147.4:c.617T>A (SELL)	ENSP00000236147.4:p.Phe206Tyr
ENST00000463108.5:n.778T>A (SELL)
ENST00000466340.1:n.590T>A (SELL)
ENST00000479657.5:n.330T>A (SELL)
ENST00000498289.5:n.851+23412A>T (FIRRM)
NM_000655.4:c.617T>A (SELL)	NP_000646.2:p.Phe206Tyr
NR_029467.1:n.546T>A (SELL)
NM_000655.5:c.578T>A (SELL) MANE Select	NP_000646.3:p.Phe193Tyr
NR_029467.2:n.547T>A (SELL)