Canonical Allele Identifier: CA347714187

Gene: CNNM4

Linked Data

• dbSNP Id: rs2078762653
• gnomAD v4: 2-96761522-G-A
• MyVariant Identifiers: chr2:g.97427259G>A (hg19) ; chr2:g.96761522G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761522G>A , CM000664.2:g.96761522G>A	GRCh38
NC_000002.11:g.97427259G>A , CM000664.1:g.97427259G>A	GRCh37
NC_000002.10:g.96790986G>A	NCBI36
NG_016608.1:g.5621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.523G>A MANE Select	ENSP00000366275.2:p.Glu175Lys
ENST00000377075.2:c.523G>A	ENSP00000366275.2:p.Glu175Lys
NM_020184.3:c.523G>A	NP_064569.3:p.Glu175Lys
XM_005263914.2:c.523G>A	XP_005263971.1:p.Glu175Lys
XM_005263915.2:c.523G>A	XP_005263972.1:p.Glu175Lys
XM_011510955.1:c.523G>A	XP_011509257.1:p.Glu175Lys
XM_011510956.1:c.523G>A	XP_011509258.1:p.Glu175Lys
XM_005263914.4:c.523G>A	XP_005263971.1:p.Glu175Lys
XM_005263915.4:c.523G>A	XP_005263972.1:p.Glu175Lys
XM_011510955.3:c.523G>A	XP_011509257.1:p.Glu175Lys
XM_011510956.3:c.523G>A	XP_011509258.1:p.Glu175Lys
NM_020184.4:c.523G>A MANE Select	NP_064569.3:p.Glu175Lys