Canonical Allele Identifier: CA1783215

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 2788411
• ClinVar RCV Id: RCV003672061
• dbSNP Id: rs778099516
• ExAC: 2:97427204 CGACGGGCCCTGGCT / C
• gnomAD v2: 2-97427204-CGACGGGCCCTGGCT-C
• gnomAD v4: 2-96761467-CGACGGGCCCTGGCT-C
• MyVariant Identifiers: chr2:g.97427205_97427218del (hg19) ; chr2:g.96761468_96761481del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761470_96761483del , CM000664.2:g.96761470_96761483del	GRCh38
NC_000002.11:g.97427207_97427220del , CM000664.1:g.97427207_97427220del	GRCh37
NC_000002.10:g.96790934_96790947del	NCBI36
NG_016608.1:g.5569_5582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.471_484del MANE Select	ENSP00000366275.2:p.Asp157GlufsTer?
ENST00000377075.2:c.471_484del	ENSP00000366275.2:p.Asp157GlufsTer?
NM_020184.3:c.471_484del	NP_064569.3:p.Asp157GlufsTer?
XM_005263914.2:c.471_484del	XP_005263971.1:p.Asp157GlufsTer?
XM_005263915.2:c.471_484del	XP_005263972.1:p.Asp157GlufsTer?
XM_011510955.1:c.471_484del	XP_011509257.1:p.Asp157GlufsTer?
XM_011510956.1:c.471_484del	XP_011509258.1:p.Asp157GlufsTer?
XM_005263914.4:c.471_484del	XP_005263971.1:p.Asp157GlufsTer?
XM_005263915.4:c.471_484del	XP_005263972.1:p.Asp157GlufsTer?
XM_011510955.3:c.471_484del	XP_011509257.1:p.Asp157GlufsTer?
XM_011510956.3:c.471_484del	XP_011509258.1:p.Asp157GlufsTer?
NM_020184.4:c.471_484del MANE Select	NP_064569.3:p.Asp157GlufsTer?