Canonical Allele Identifier: CA343139241

Gene: SELL FIRRM

Linked Data

• gnomAD v4: 1-169707450-C-G
• MyVariant Identifiers: chr1:g.169676591C>G (hg19) ; chr1:g.169707450C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707450C>G , CM000663.2:g.169707450C>G	GRCh38
NC_000001.10:g.169676591C>G , CM000663.1:g.169676591C>G	GRCh37
NC_000001.9:g.167943215C>G	NCBI36
NG_016132.1:g.9253G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.473-1G>C (SELL) MANE Select	ENSP00000236147.5:n.473-1G>C
ENST00000650983.1:c.512-1G>C (SELL)	ENSP00000498227.1:n.512-1G>C
ENST00000236147.4:c.512-1G>C (SELL)	ENSP00000236147.4:n.512-1G>C
ENST00000463108.5:n.673-1G>C (SELL)
ENST00000466340.1:n.485-1G>C (SELL)
ENST00000479657.5:n.225-1G>C (SELL)
ENST00000498289.5:n.851+23518C>G (FIRRM)
NM_000655.4:c.512-1G>C (SELL)	NP_000646.2:n.512-1G>C
NR_029467.1:n.441-1G>C (SELL)
NM_000655.5:c.473-1G>C (SELL) MANE Select	NP_000646.3:n.473-1G>C
NR_029467.2:n.442-1G>C (SELL)