Canonical Allele Identifier: CA347714024

Gene: CNNM4

Linked Data

• gnomAD v4: 2-96761484-A-G
• MyVariant Identifiers: chr2:g.97427221A>G (hg19) ; chr2:g.96761484A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761484A>G , CM000664.2:g.96761484A>G	GRCh38
NC_000002.11:g.97427221A>G , CM000664.1:g.97427221A>G	GRCh37
NC_000002.10:g.96790948A>G	NCBI36
NG_016608.1:g.5583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.485A>G MANE Select	ENSP00000366275.2:p.Lys162Arg
ENST00000377075.2:c.485A>G	ENSP00000366275.2:p.Lys162Arg
NM_020184.3:c.485A>G	NP_064569.3:p.Lys162Arg
XM_005263914.2:c.485A>G	XP_005263971.1:p.Lys162Arg
XM_005263915.2:c.485A>G	XP_005263972.1:p.Lys162Arg
XM_011510955.1:c.485A>G	XP_011509257.1:p.Lys162Arg
XM_011510956.1:c.485A>G	XP_011509258.1:p.Lys162Arg
XM_005263914.4:c.485A>G	XP_005263971.1:p.Lys162Arg
XM_005263915.4:c.485A>G	XP_005263972.1:p.Lys162Arg
XM_011510955.3:c.485A>G	XP_011509257.1:p.Lys162Arg
XM_011510956.3:c.485A>G	XP_011509258.1:p.Lys162Arg
NM_020184.4:c.485A>G MANE Select	NP_064569.3:p.Lys162Arg