Canonical Allele Identifier: CA1236348

Gene: SELE FIRRM

Linked Data

• dbSNP Id: rs765108957
• ExAC: 1:169700979 G / C
• gnomAD v2: 1-169700979-G-C
• MyVariant Identifiers: chr1:g.169700979G>C (hg19) ; chr1:g.169731838G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731838G>C , CM000663.2:g.169731838G>C	GRCh38
NC_000001.10:g.169700979G>C , CM000663.1:g.169700979G>C	GRCh37
NC_000001.9:g.167967603G>C	NCBI36
NG_012124.1:g.7242C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333360.12:c.526C>G (SELE) MANE Select	ENSP00000331736.7:p.Gln176Glu
ENST00000333360.11:c.526C>G (SELE)	ENSP00000331736.7:p.Gln176Glu
ENST00000367774.1:c.526C>G (SELE)	ENSP00000356748.1:p.Gln176Glu
ENST00000367775.5:c.526C>G (SELE)	ENSP00000356749.1:p.Gln176Glu
ENST00000367776.5:c.526C>G (SELE)	ENSP00000356750.1:p.Gln176Glu
ENST00000367777.5:c.526C>G (SELE)	ENSP00000356751.1:p.Gln176Glu
ENST00000461085.1:n.209C>G (SELE)
ENST00000498289.5:n.851+47906G>C (FIRRM)
NM_000450.2:c.526C>G (SELE) MANE Select	NP_000441.2:p.Gln176Glu