Canonical Allele Identifier: CA427813259

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 1596123
• ClinVar RCV Id: RCV002117289
• dbSNP Id: rs1457998671
• gnomAD v2: 2-97427268-A-C
• gnomAD v3: 2-96761531-A-C
• gnomAD v4: 2-96761531-A-C
• MyVariant Identifiers: chr2:g.97427268A>C (hg19) ; chr2:g.96761531A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761531A>C , CM000664.2:g.96761531A>C	GRCh38
NC_000002.11:g.97427268A>C , CM000664.1:g.97427268A>C	GRCh37
NC_000002.10:g.96790995A>C	NCBI36
NG_016608.1:g.5630A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.532A>C MANE Select	ENSP00000366275.2:p.Arg178=
ENST00000377075.2:c.532A>C	ENSP00000366275.2:p.Arg178=
NM_020184.3:c.532A>C	NP_064569.3:p.Arg178=
XM_005263914.2:c.532A>C	XP_005263971.1:p.Arg178=
XM_005263915.2:c.532A>C	XP_005263972.1:p.Arg178=
XM_011510955.1:c.532A>C	XP_011509257.1:p.Arg178=
XM_011510956.1:c.532A>C	XP_011509258.1:p.Arg178=
XM_005263914.4:c.532A>C	XP_005263971.1:p.Arg178=
XM_005263915.4:c.532A>C	XP_005263972.1:p.Arg178=
XM_011510955.3:c.532A>C	XP_011509257.1:p.Arg178=
XM_011510956.3:c.532A>C	XP_011509258.1:p.Arg178=
NM_020184.4:c.532A>C MANE Select	NP_064569.3:p.Arg178=