Canonical Allele Identifier: CA347714431
Gene: CNNM4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.97427333T>A (hg19) chr2:g.96761596T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96761596T>A , CM000664.2:g.96761596T>A GRCh38
NC_000002.11:g.97427333T>A , CM000664.1:g.97427333T>A GRCh37
NC_000002.10:g.96791060T>A NCBI36
NG_016608.1:g.5695T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377075.3:c.597T>A MANE Select ENSP00000366275.2:p.Phe199Leu
ENST00000377075.2:c.597T>A ENSP00000366275.2:p.Phe199Leu
NM_020184.3:c.597T>A NP_064569.3:p.Phe199Leu
XM_005263914.2:c.597T>A XP_005263971.1:p.Phe199Leu
XM_005263915.2:c.597T>A XP_005263972.1:p.Phe199Leu
XM_011510955.1:c.597T>A XP_011509257.1:p.Phe199Leu
XM_011510956.1:c.597T>A XP_011509258.1:p.Phe199Leu
XM_005263914.4:c.597T>A XP_005263971.1:p.Phe199Leu
XM_005263915.4:c.597T>A XP_005263972.1:p.Phe199Leu
XM_011510955.3:c.597T>A XP_011509257.1:p.Phe199Leu
XM_011510956.3:c.597T>A XP_011509258.1:p.Phe199Leu
NM_020184.4:c.597T>A MANE Select NP_064569.3:p.Phe199Leu
Search 100 bp 5'
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