Canonical Allele Identifier: CA890964247

Gene: SELE FIRRM

Linked Data

• dbSNP Id: rs1174204759
• gnomAD v3: 1-169731546-G-C
• gnomAD v4: 1-169731546-G-C
• MyVariant Identifiers: chr1:g.169700687G>C (hg19) ; chr1:g.169731546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731546G>C , CM000663.2:g.169731546G>C	GRCh38
NC_000001.10:g.169700687G>C , CM000663.1:g.169700687G>C	GRCh37
NC_000001.9:g.167967311G>C	NCBI36
NG_012124.1:g.7534C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.529+289C>G (SELE) MANE Select	ENSP00000331736.7:n.529+289C>G
ENST00000333360.11:c.529+289C>G (SELE)	ENSP00000331736.7:n.529+289C>G
ENST00000367774.1:c.529+289C>G (SELE)	ENSP00000356748.1:n.529+289C>G
ENST00000367775.5:c.529+289C>G (SELE)	ENSP00000356749.1:n.529+289C>G
ENST00000367776.5:c.529+289C>G (SELE)	ENSP00000356750.1:n.529+289C>G
ENST00000367777.5:c.529+289C>G (SELE)	ENSP00000356751.1:n.529+289C>G
ENST00000461085.1:n.501C>G (SELE)
ENST00000498289.5:n.851+47614G>C (FIRRM)
NM_000450.2:c.529+289C>G (SELE) MANE Select	NP_000441.2:n.529+289C>G