Canonical Allele Identifier: CA347713614
Gene: CNNM4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2015384
ClinVar RCV Id: RCV002846325

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96761410G>T , CM000664.2:g.96761410G>T GRCh38
NC_000002.11:g.97427147G>T , CM000664.1:g.97427147G>T GRCh37
NC_000002.10:g.96790874G>T NCBI36
NG_016608.1:g.5509G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377075.3:c.411G>T MANE Select ENSP00000366275.2:p.Lys137Asn
ENST00000377075.2:c.411G>T ENSP00000366275.2:p.Lys137Asn
NM_020184.3:c.411G>T NP_064569.3:p.Lys137Asn
XM_005263914.2:c.411G>T XP_005263971.1:p.Lys137Asn
XM_005263915.2:c.411G>T XP_005263972.1:p.Lys137Asn
XM_011510955.1:c.411G>T XP_011509257.1:p.Lys137Asn
XM_011510956.1:c.411G>T XP_011509258.1:p.Lys137Asn
XM_005263914.4:c.411G>T XP_005263971.1:p.Lys137Asn
XM_005263915.4:c.411G>T XP_005263972.1:p.Lys137Asn
XM_011510955.3:c.411G>T XP_011509257.1:p.Lys137Asn
XM_011510956.3:c.411G>T XP_011509258.1:p.Lys137Asn
NM_020184.4:c.411G>T MANE Select NP_064569.3:p.Lys137Asn