Canonical Allele Identifier: CA2598418604

Gene: CLMN

Linked Data

• dbSNP Id: rs982228230
• gnomAD v3: 14-95254248-C-T
• gnomAD v4: 14-95254248-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.95254248C>T , CM000676.2:g.95254248C>T	GRCh38
NC_000014.8:g.95720585C>T , CM000676.1:g.95720585C>T	GRCh37
NC_000014.7:g.94790338C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298912.9:c.83-24115G>A MANE Select	ENSP00000298912.3:n.83-24115G>A
ENST00000298912.8:c.83-24115G>A	ENSP00000298912.3:n.83-24115G>A
ENST00000553733.1:c.83-24115G>A	ENSP00000451189.1:n.83-24115G>A
ENST00000555336.6:c.-123+6267G>A	ENSP00000451705.1:n.-123+6267G>A
ENST00000555615.1:c.-122-24115G>A	ENSP00000452525.1:n.-122-24115G>A
NM_024734.3:c.83-24115G>A	NP_079010.2:n.83-24115G>A
XM_011537158.1:c.83-24115G>A	XP_011535460.1:n.83-24115G>A
XM_011537159.1:c.83-24115G>A	XP_011535461.1:n.83-24115G>A
XR_245721.2:n.195-24115G>A
XR_429330.2:n.195-24115G>A
XR_429332.2:n.195-24115G>A
XM_011537159.2:c.83-24115G>A	XP_011535461.1:n.83-24115G>A
XM_017021646.1:c.23-24115G>A	XP_016877135.1:n.23-24115G>A
XM_017021647.1:c.83-24115G>A	XP_016877136.1:n.83-24115G>A
XR_001750558.1:n.195-24115G>A
NM_024734.4:c.83-24115G>A MANE Select	NP_079010.2:n.83-24115G>A