Canonical Allele Identifier: CA347714779
Gene: CNNM4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96761700C>T , CM000664.2:g.96761700C>T GRCh38
NC_000002.11:g.97427437C>T , CM000664.1:g.97427437C>T GRCh37
NC_000002.10:g.96791164C>T NCBI36
NG_016608.1:g.5799C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377075.3:c.701C>T MANE Select ENSP00000366275.2:p.Pro234Leu
ENST00000377075.2:c.701C>T ENSP00000366275.2:p.Pro234Leu
NM_020184.3:c.701C>T NP_064569.3:p.Pro234Leu
XM_005263914.2:c.701C>T XP_005263971.1:p.Pro234Leu
XM_005263915.2:c.701C>T XP_005263972.1:p.Pro234Leu
XM_011510955.1:c.701C>T XP_011509257.1:p.Pro234Leu
XM_011510956.1:c.701C>T XP_011509258.1:p.Pro234Leu
XM_005263914.4:c.701C>T XP_005263971.1:p.Pro234Leu
XM_005263915.4:c.701C>T XP_005263972.1:p.Pro234Leu
XM_011510955.3:c.701C>T XP_011509257.1:p.Pro234Leu
XM_011510956.3:c.701C>T XP_011509258.1:p.Pro234Leu
NM_020184.4:c.701C>T MANE Select NP_064569.3:p.Pro234Leu