Canonical Allele Identifier: CA149065

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 95944
• ClinVar RCV Id: RCV000081996 ; RCV000259578 ; RCV000953244
• dbSNP Id: rs34147094
• ExAC: 2:97427135 G / A
• gnomAD v2: 2-97427135-G-A
• gnomAD v3: 2-96761398-G-A
• gnomAD v4: 2-96761398-G-A
• MyVariant Identifiers: chr2:g.97427135G>A (hg19) ; chr2:g.96761398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761398G>A , CM000664.2:g.96761398G>A	GRCh38
NC_000002.11:g.97427135G>A , CM000664.1:g.97427135G>A	GRCh37
NC_000002.10:g.96790862G>A	NCBI36
NG_016608.1:g.5497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.399G>A MANE Select	ENSP00000366275.2:p.Val133=
ENST00000377075.2:c.399G>A	ENSP00000366275.2:p.Val133=
NM_020184.3:c.399G>A	NP_064569.3:p.Val133=
XM_005263914.2:c.399G>A	XP_005263971.1:p.Val133=
XM_005263915.2:c.399G>A	XP_005263972.1:p.Val133=
XM_011510955.1:c.399G>A	XP_011509257.1:p.Val133=
XM_011510956.1:c.399G>A	XP_011509258.1:p.Val133=
XM_005263914.4:c.399G>A	XP_005263971.1:p.Val133=
XM_005263915.4:c.399G>A	XP_005263972.1:p.Val133=
XM_011510955.3:c.399G>A	XP_011509257.1:p.Val133=
XM_011510956.3:c.399G>A	XP_011509258.1:p.Val133=
NM_020184.4:c.399G>A MANE Select	NP_064569.3:p.Val133=