Canonical Allele Identifier: CA347713460

Gene: CNNM4

Linked Data

• dbSNP Id: rs2078760052
• gnomAD v3: 2-96761388-G-C
• gnomAD v4: 2-96761388-G-C
• MyVariant Identifiers: chr2:g.97427125G>C (hg19) ; chr2:g.96761388G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96761388G>C , CM000664.2:g.96761388G>C	GRCh38
NC_000002.11:g.97427125G>C , CM000664.1:g.97427125G>C	GRCh37
NC_000002.10:g.96790852G>C	NCBI36
NG_016608.1:g.5487G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377075.3:c.389G>C MANE Select	ENSP00000366275.2:p.Gly130Ala
ENST00000377075.2:c.389G>C	ENSP00000366275.2:p.Gly130Ala
NM_020184.3:c.389G>C	NP_064569.3:p.Gly130Ala
XM_005263914.2:c.389G>C	XP_005263971.1:p.Gly130Ala
XM_005263915.2:c.389G>C	XP_005263972.1:p.Gly130Ala
XM_011510955.1:c.389G>C	XP_011509257.1:p.Gly130Ala
XM_011510956.1:c.389G>C	XP_011509258.1:p.Gly130Ala
XM_005263914.4:c.389G>C	XP_005263971.1:p.Gly130Ala
XM_005263915.4:c.389G>C	XP_005263972.1:p.Gly130Ala
XM_011510955.3:c.389G>C	XP_011509257.1:p.Gly130Ala
XM_011510956.3:c.389G>C	XP_011509258.1:p.Gly130Ala
NM_020184.4:c.389G>C MANE Select	NP_064569.3:p.Gly130Ala