Canonical Allele Identifier: CA347714120
Gene: CNNM4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.97427242T>C (hg19) chr2:g.96761505T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96761505T>C , CM000664.2:g.96761505T>C GRCh38
NC_000002.11:g.97427242T>C , CM000664.1:g.97427242T>C GRCh37
NC_000002.10:g.96790969T>C NCBI36
NG_016608.1:g.5604T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377075.3:c.506T>C MANE Select ENSP00000366275.2:p.Leu169Pro
ENST00000377075.2:c.506T>C ENSP00000366275.2:p.Leu169Pro
NM_020184.3:c.506T>C NP_064569.3:p.Leu169Pro
XM_005263914.2:c.506T>C XP_005263971.1:p.Leu169Pro
XM_005263915.2:c.506T>C XP_005263972.1:p.Leu169Pro
XM_011510955.1:c.506T>C XP_011509257.1:p.Leu169Pro
XM_011510956.1:c.506T>C XP_011509258.1:p.Leu169Pro
XM_005263914.4:c.506T>C XP_005263971.1:p.Leu169Pro
XM_005263915.4:c.506T>C XP_005263972.1:p.Leu169Pro
XM_011510955.3:c.506T>C XP_011509257.1:p.Leu169Pro
XM_011510956.3:c.506T>C XP_011509258.1:p.Leu169Pro
NM_020184.4:c.506T>C MANE Select NP_064569.3:p.Leu169Pro
Search 100 bp 5'
Search 100 bp 3'