Canonical Allele Identifier: CA10586134

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 252931
• ClinVar RCV Id: RCV000239384
• dbSNP Id: rs879255500
• MyVariant Identifiers: chr2:g.97464793G>C (hg19) ; chr2:g.96799056G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96799056G>C , CM000664.2:g.96799056G>C	GRCh38
NC_000002.11:g.97464793G>C , CM000664.1:g.97464793G>C	GRCh37
NC_000002.10:g.96828520G>C	NCBI36
NG_016608.1:g.43155G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.1682-1G>C MANE Select	ENSP00000366275.2:n.1682-1G>C
ENST00000377075.2:c.1682-1G>C	ENSP00000366275.2:n.1682-1G>C
ENST00000493384.1:n.462-1G>C
ENST00000496186.5:n.356-1G>C
NM_020184.3:c.1682-1G>C	NP_064569.3:n.1682-1G>C
XM_005263914.2:c.1682-1G>C	XP_005263971.1:n.1682-1G>C
XM_005263915.2:c.1682-1G>C	XP_005263972.1:n.1682-1G>C
XM_011510955.1:c.1682-1G>C	XP_011509257.1:n.1682-1G>C
XM_005263914.4:c.1682-1G>C	XP_005263971.1:n.1682-1G>C
XM_005263915.4:c.1682-1G>C	XP_005263972.1:n.1682-1G>C
XM_011510955.3:c.1682-1G>C	XP_011509257.1:n.1682-1G>C
XM_017003799.1:c.143-1G>C	XP_016859288.1:n.143-1G>C
NM_020184.4:c.1682-1G>C MANE Select	NP_064569.3:n.1682-1G>C