Canonical Allele Identifier: CA347714273

Gene: CNNM4

Linked Data

• gnomAD v4: 2-96761543-C-T
• COSMIC: COSM3584147
• MyVariant Identifiers: chr2:g.97427280C>T (hg19) ; chr2:g.96761543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761543C>T , CM000664.2:g.96761543C>T	GRCh38
NC_000002.11:g.97427280C>T , CM000664.1:g.97427280C>T	GRCh37
NC_000002.10:g.96791007C>T	NCBI36
NG_016608.1:g.5642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.544C>T MANE Select	ENSP00000366275.2:p.Leu182Phe
ENST00000377075.2:c.544C>T	ENSP00000366275.2:p.Leu182Phe
NM_020184.3:c.544C>T	NP_064569.3:p.Leu182Phe
XM_005263914.2:c.544C>T	XP_005263971.1:p.Leu182Phe
XM_005263915.2:c.544C>T	XP_005263972.1:p.Leu182Phe
XM_011510955.1:c.544C>T	XP_011509257.1:p.Leu182Phe
XM_011510956.1:c.544C>T	XP_011509258.1:p.Leu182Phe
XM_005263914.4:c.544C>T	XP_005263971.1:p.Leu182Phe
XM_005263915.4:c.544C>T	XP_005263972.1:p.Leu182Phe
XM_011510955.3:c.544C>T	XP_011509257.1:p.Leu182Phe
XM_011510956.3:c.544C>T	XP_011509258.1:p.Leu182Phe
NM_020184.4:c.544C>T MANE Select	NP_064569.3:p.Leu182Phe