Canonical Allele Identifier: CA347713830
Gene: CNNM4 HGNC NCBI

Linked Data

ClinVar Variation Id: 895045
ClinVar RCV Id: RCV001136913
dbSNP Id: rs1416575882
gnomAD v2: 2-97427181-G-T
gnomAD v4: 2-96761444-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96761444G>T , CM000664.2:g.96761444G>T GRCh38
NC_000002.11:g.97427181G>T , CM000664.1:g.97427181G>T GRCh37
NC_000002.10:g.96790908G>T NCBI36
NG_016608.1:g.5543G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377075.3:c.445G>T MANE Select ENSP00000366275.2:p.Ala149Ser
ENST00000377075.2:c.445G>T ENSP00000366275.2:p.Ala149Ser
NM_020184.3:c.445G>T NP_064569.3:p.Ala149Ser
XM_005263914.2:c.445G>T XP_005263971.1:p.Ala149Ser
XM_005263915.2:c.445G>T XP_005263972.1:p.Ala149Ser
XM_011510955.1:c.445G>T XP_011509257.1:p.Ala149Ser
XM_011510956.1:c.445G>T XP_011509258.1:p.Ala149Ser
XM_005263914.4:c.445G>T XP_005263971.1:p.Ala149Ser
XM_005263915.4:c.445G>T XP_005263972.1:p.Ala149Ser
XM_011510955.3:c.445G>T XP_011509257.1:p.Ala149Ser
XM_011510956.3:c.445G>T XP_011509258.1:p.Ala149Ser
NM_020184.4:c.445G>T MANE Select NP_064569.3:p.Ala149Ser