Canonical Allele Identifier: CA236059

Gene: CNNM4

Linked Data

• ClinVar Variation Id: 191119
• ClinVar RCV Id: RCV000171299
• dbSNP Id: rs786205530
• MyVariant Identifiers: chr2:g.97427470C>T (hg19) ; chr2:g.96761733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761733C>T , CM000664.2:g.96761733C>T	GRCh38
NC_000002.11:g.97427470C>T , CM000664.1:g.97427470C>T	GRCh37
NC_000002.10:g.96791197C>T	NCBI36
NG_016608.1:g.5832C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377075.3:c.734C>T MANE Select	ENSP00000366275.2:p.Ser245Leu
ENST00000377075.2:c.734C>T	ENSP00000366275.2:p.Ser245Leu
NM_020184.3:c.734C>T	NP_064569.3:p.Ser245Leu
XM_005263914.2:c.734C>T	XP_005263971.1:p.Ser245Leu
XM_005263915.2:c.734C>T	XP_005263972.1:p.Ser245Leu
XM_011510955.1:c.734C>T	XP_011509257.1:p.Ser245Leu
XM_011510956.1:c.734C>T	XP_011509258.1:p.Ser245Leu
XM_005263914.4:c.734C>T	XP_005263971.1:p.Ser245Leu
XM_005263915.4:c.734C>T	XP_005263972.1:p.Ser245Leu
XM_011510955.3:c.734C>T	XP_011509257.1:p.Ser245Leu
XM_011510956.3:c.734C>T	XP_011509258.1:p.Ser245Leu
NM_020184.4:c.734C>T MANE Select	NP_064569.3:p.Ser245Leu