Canonical Allele Identifier: CA1783218

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 1020857
• ClinVar RCV Id: RCV001320513 ; RCV002543801
• dbSNP Id: rs777028877
• ExAC: 2:97427211 C / T
• gnomAD v2: 2-97427211-C-T
• gnomAD v4: 2-96761474-C-T
• MyVariant Identifiers: chr2:g.97427211C>T (hg19) ; chr2:g.96761474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761474C>T , CM000664.2:g.96761474C>T	GRCh38
NC_000002.11:g.97427211C>T , CM000664.1:g.97427211C>T	GRCh37
NC_000002.10:g.96790938C>T	NCBI36
NG_016608.1:g.5573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.475C>T MANE Select	ENSP00000366275.2:p.Pro159Ser
ENST00000377075.2:c.475C>T	ENSP00000366275.2:p.Pro159Ser
NM_020184.3:c.475C>T	NP_064569.3:p.Pro159Ser
XM_005263914.2:c.475C>T	XP_005263971.1:p.Pro159Ser
XM_005263915.2:c.475C>T	XP_005263972.1:p.Pro159Ser
XM_011510955.1:c.475C>T	XP_011509257.1:p.Pro159Ser
XM_011510956.1:c.475C>T	XP_011509258.1:p.Pro159Ser
XM_005263914.4:c.475C>T	XP_005263971.1:p.Pro159Ser
XM_005263915.4:c.475C>T	XP_005263972.1:p.Pro159Ser
XM_011510955.3:c.475C>T	XP_011509257.1:p.Pro159Ser
XM_011510956.3:c.475C>T	XP_011509258.1:p.Pro159Ser
NM_020184.4:c.475C>T MANE Select	NP_064569.3:p.Pro159Ser