Canonical Allele Identifier: CA1783208

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 1018198
• ClinVar RCV Id: RCV001317464
• dbSNP Id: rs370486600
• ExAC: 2:97427165 G / C
• gnomAD v2: 2-97427165-G-C
• gnomAD v3: 2-96761428-G-C
• gnomAD v4: 2-96761428-G-C
• MyVariant Identifiers: chr2:g.97427165G>C (hg19) ; chr2:g.96761428G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761428G>C , CM000664.2:g.96761428G>C	GRCh38
NC_000002.11:g.97427165G>C , CM000664.1:g.97427165G>C	GRCh37
NC_000002.10:g.96790892G>C	NCBI36
NG_016608.1:g.5527G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.429G>C MANE Select	ENSP00000366275.2:p.Glu143Asp
ENST00000377075.2:c.429G>C	ENSP00000366275.2:p.Glu143Asp
NM_020184.3:c.429G>C	NP_064569.3:p.Glu143Asp
XM_005263914.2:c.429G>C	XP_005263971.1:p.Glu143Asp
XM_005263915.2:c.429G>C	XP_005263972.1:p.Glu143Asp
XM_011510955.1:c.429G>C	XP_011509257.1:p.Glu143Asp
XM_011510956.1:c.429G>C	XP_011509258.1:p.Glu143Asp
XM_005263914.4:c.429G>C	XP_005263971.1:p.Glu143Asp
XM_005263915.4:c.429G>C	XP_005263972.1:p.Glu143Asp
XM_011510955.3:c.429G>C	XP_011509257.1:p.Glu143Asp
XM_011510956.3:c.429G>C	XP_011509258.1:p.Glu143Asp
NM_020184.4:c.429G>C MANE Select	NP_064569.3:p.Glu143Asp