Canonical Allele Identifier: CA347713444

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 2071564
• ClinVar RCV Id: RCV002975677
• MyVariant Identifiers: chr2:g.97427121T>A (hg19) ; chr2:g.96761384T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761384T>A , CM000664.2:g.96761384T>A	GRCh38
NC_000002.11:g.97427121T>A , CM000664.1:g.97427121T>A	GRCh37
NC_000002.10:g.96790848T>A	NCBI36
NG_016608.1:g.5483T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.385T>A MANE Select	ENSP00000366275.2:p.Ser129Thr
ENST00000377075.2:c.385T>A	ENSP00000366275.2:p.Ser129Thr
NM_020184.3:c.385T>A	NP_064569.3:p.Ser129Thr
XM_005263914.2:c.385T>A	XP_005263971.1:p.Ser129Thr
XM_005263915.2:c.385T>A	XP_005263972.1:p.Ser129Thr
XM_011510955.1:c.385T>A	XP_011509257.1:p.Ser129Thr
XM_011510956.1:c.385T>A	XP_011509258.1:p.Ser129Thr
XM_005263914.4:c.385T>A	XP_005263971.1:p.Ser129Thr
XM_005263915.4:c.385T>A	XP_005263972.1:p.Ser129Thr
XM_011510955.3:c.385T>A	XP_011509257.1:p.Ser129Thr
XM_011510956.3:c.385T>A	XP_011509258.1:p.Ser129Thr
NM_020184.4:c.385T>A MANE Select	NP_064569.3:p.Ser129Thr