Canonical Allele Identifier: CA347713747

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 1398991
• ClinVar RCV Id: RCV001893681
• dbSNP Id: rs2153341521
• MyVariant Identifiers: chr2:g.97427167G>T (hg19) ; chr2:g.96761430G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761430G>T , CM000664.2:g.96761430G>T	GRCh38
NC_000002.11:g.97427167G>T , CM000664.1:g.97427167G>T	GRCh37
NC_000002.10:g.96790894G>T	NCBI36
NG_016608.1:g.5529G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.431G>T MANE Select	ENSP00000366275.2:p.Ser144Ile
ENST00000377075.2:c.431G>T	ENSP00000366275.2:p.Ser144Ile
NM_020184.3:c.431G>T	NP_064569.3:p.Ser144Ile
XM_005263914.2:c.431G>T	XP_005263971.1:p.Ser144Ile
XM_005263915.2:c.431G>T	XP_005263972.1:p.Ser144Ile
XM_011510955.1:c.431G>T	XP_011509257.1:p.Ser144Ile
XM_011510956.1:c.431G>T	XP_011509258.1:p.Ser144Ile
XM_005263914.4:c.431G>T	XP_005263971.1:p.Ser144Ile
XM_005263915.4:c.431G>T	XP_005263972.1:p.Ser144Ile
XM_011510955.3:c.431G>T	XP_011509257.1:p.Ser144Ile
XM_011510956.3:c.431G>T	XP_011509258.1:p.Ser144Ile
NM_020184.4:c.431G>T MANE Select	NP_064569.3:p.Ser144Ile