Canonical Allele Identifier: CA1783227

Gene: CNNM4

Linked Data

• dbSNP Id: rs552814825
• ExAC: 2:97427284 G / C
• gnomAD v2: 2-97427284-G-C
• gnomAD v3: 2-96761547-G-C
• gnomAD v4: 2-96761547-G-C
• MyVariant Identifiers: chr2:g.97427284G>C (hg19) ; chr2:g.96761547G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761547G>C , CM000664.2:g.96761547G>C	GRCh38
NC_000002.11:g.97427284G>C , CM000664.1:g.97427284G>C	GRCh37
NC_000002.10:g.96791011G>C	NCBI36
NG_016608.1:g.5646G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.548G>C MANE Select	ENSP00000366275.2:p.Trp183Ser
ENST00000377075.2:c.548G>C	ENSP00000366275.2:p.Trp183Ser
NM_020184.3:c.548G>C	NP_064569.3:p.Trp183Ser
XM_005263914.2:c.548G>C	XP_005263971.1:p.Trp183Ser
XM_005263915.2:c.548G>C	XP_005263972.1:p.Trp183Ser
XM_011510955.1:c.548G>C	XP_011509257.1:p.Trp183Ser
XM_011510956.1:c.548G>C	XP_011509258.1:p.Trp183Ser
XM_005263914.4:c.548G>C	XP_005263971.1:p.Trp183Ser
XM_005263915.4:c.548G>C	XP_005263972.1:p.Trp183Ser
XM_011510955.3:c.548G>C	XP_011509257.1:p.Trp183Ser
XM_011510956.3:c.548G>C	XP_011509258.1:p.Trp183Ser
NM_020184.4:c.548G>C MANE Select	NP_064569.3:p.Trp183Ser