Canonical Allele Identifier: CA347713481
Gene: CNNM4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96761390G>C , CM000664.2:g.96761390G>C GRCh38
NC_000002.11:g.97427127G>C , CM000664.1:g.97427127G>C GRCh37
NC_000002.10:g.96790854G>C NCBI36
NG_016608.1:g.5489G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377075.3:c.391G>C MANE Select ENSP00000366275.2:p.Val131Leu
ENST00000377075.2:c.391G>C ENSP00000366275.2:p.Val131Leu
NM_020184.3:c.391G>C NP_064569.3:p.Val131Leu
XM_005263914.2:c.391G>C XP_005263971.1:p.Val131Leu
XM_005263915.2:c.391G>C XP_005263972.1:p.Val131Leu
XM_011510955.1:c.391G>C XP_011509257.1:p.Val131Leu
XM_011510956.1:c.391G>C XP_011509258.1:p.Val131Leu
XM_005263914.4:c.391G>C XP_005263971.1:p.Val131Leu
XM_005263915.4:c.391G>C XP_005263972.1:p.Val131Leu
XM_011510955.3:c.391G>C XP_011509257.1:p.Val131Leu
XM_011510956.3:c.391G>C XP_011509258.1:p.Val131Leu
NM_020184.4:c.391G>C MANE Select NP_064569.3:p.Val131Leu