Canonical Allele Identifier: CA347714006

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 1304369
• ClinVar RCV Id: RCV001752136
• dbSNP Id: rs2153341562
• gnomAD v3: 2-96761481-T-C
• gnomAD v4: 2-96761481-T-C
• MyVariant Identifiers: chr2:g.97427218T>C (hg19) ; chr2:g.96761481T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761481T>C , CM000664.2:g.96761481T>C	GRCh38
NC_000002.11:g.97427218T>C , CM000664.1:g.97427218T>C	GRCh37
NC_000002.10:g.96790945T>C	NCBI36
NG_016608.1:g.5580T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.482T>C MANE Select	ENSP00000366275.2:p.Leu161Pro
ENST00000377075.2:c.482T>C	ENSP00000366275.2:p.Leu161Pro
NM_020184.3:c.482T>C	NP_064569.3:p.Leu161Pro
XM_005263914.2:c.482T>C	XP_005263971.1:p.Leu161Pro
XM_005263915.2:c.482T>C	XP_005263972.1:p.Leu161Pro
XM_011510955.1:c.482T>C	XP_011509257.1:p.Leu161Pro
XM_011510956.1:c.482T>C	XP_011509258.1:p.Leu161Pro
XM_005263914.4:c.482T>C	XP_005263971.1:p.Leu161Pro
XM_005263915.4:c.482T>C	XP_005263972.1:p.Leu161Pro
XM_011510955.3:c.482T>C	XP_011509257.1:p.Leu161Pro
XM_011510956.3:c.482T>C	XP_011509258.1:p.Leu161Pro
NM_020184.4:c.482T>C MANE Select	NP_064569.3:p.Leu161Pro