Canonical Allele Identifier: CA347713716

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 1484748
• ClinVar RCV Id: RCV002006030
• dbSNP Id: rs1362076464
• gnomAD v4: 2-96761425-C-G
• MyVariant Identifiers: chr2:g.97427162C>G (hg19) ; chr2:g.96761425C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761425C>G , CM000664.2:g.96761425C>G	GRCh38
NC_000002.11:g.97427162C>G , CM000664.1:g.97427162C>G	GRCh37
NC_000002.10:g.96790889C>G	NCBI36
NG_016608.1:g.5524C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.426C>G MANE Select	ENSP00000366275.2:p.Ser142Arg
ENST00000377075.2:c.426C>G	ENSP00000366275.2:p.Ser142Arg
NM_020184.3:c.426C>G	NP_064569.3:p.Ser142Arg
XM_005263914.2:c.426C>G	XP_005263971.1:p.Ser142Arg
XM_005263915.2:c.426C>G	XP_005263972.1:p.Ser142Arg
XM_011510955.1:c.426C>G	XP_011509257.1:p.Ser142Arg
XM_011510956.1:c.426C>G	XP_011509258.1:p.Ser142Arg
XM_005263914.4:c.426C>G	XP_005263971.1:p.Ser142Arg
XM_005263915.4:c.426C>G	XP_005263972.1:p.Ser142Arg
XM_011510955.3:c.426C>G	XP_011509257.1:p.Ser142Arg
XM_011510956.3:c.426C>G	XP_011509258.1:p.Ser142Arg
NM_020184.4:c.426C>G MANE Select	NP_064569.3:p.Ser142Arg