Canonical Allele Identifier: CA1783237

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 1070169
• ClinVar RCV Id: RCV001382207
• dbSNP Id: rs757363494
• ExAC: 2:97427355 ATG / A
• gnomAD v2: 2-97427355-ATG-A
• gnomAD v3: 2-96761618-ATG-A
• gnomAD v4: 2-96761618-ATG-A
• MyVariant Identifiers: chr2:g.97427356_97427357del (hg19) ; chr2:g.96761619_96761620del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761619_96761620del , CM000664.2:g.96761619_96761620del	GRCh38
NC_000002.11:g.97427356_97427357del , CM000664.1:g.97427356_97427357del	GRCh37
NC_000002.10:g.96791083_96791084del	NCBI36
NG_016608.1:g.5718_5719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.620_621del MANE Select	ENSP00000366275.2:p.Met207SerfsTer26
ENST00000377075.2:c.620_621del	ENSP00000366275.2:p.Met207SerfsTer26
NM_020184.3:c.620_621del	NP_064569.3:p.Met207SerfsTer26
XM_005263914.2:c.620_621del	XP_005263971.1:p.Met207SerfsTer26
XM_005263915.2:c.620_621del	XP_005263972.1:p.Met207SerfsTer26
XM_011510955.1:c.620_621del	XP_011509257.1:p.Met207SerfsTer26
XM_011510956.1:c.620_621del	XP_011509258.1:p.Met207SerfsTer26
XM_005263914.4:c.620_621del	XP_005263971.1:p.Met207SerfsTer26
XM_005263915.4:c.620_621del	XP_005263972.1:p.Met207SerfsTer26
XM_011510955.3:c.620_621del	XP_011509257.1:p.Met207SerfsTer26
XM_011510956.3:c.620_621del	XP_011509258.1:p.Met207SerfsTer26
NM_020184.4:c.620_621del MANE Select	NP_064569.3:p.Met207SerfsTer26