Canonical Allele Identifier: CA135011

Gene: EYA4

Linked Data

• ClinVar Variation Id: 44773
• ClinVar RCV Id: RCV000037882 ; RCV000247179 ; RCV000276894 ; RCV000332466 ; RCV002490514
• dbSNP Id: rs9493627
• ExAC: 6:133789728 G / A
• gnomAD v2: 6-133789728-G-A
• gnomAD v3: 6-133468590-G-A
• gnomAD v4: 6-133468590-G-A
• MyVariant Identifiers: chr6:g.133789728G>A (hg19) ; chr6:g.133468590G>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133468590G>A , CM000668.2:g.133468590G>A	GRCh38
NC_000006.11:g.133789728G>A , CM000668.1:g.133789728G>A	GRCh37
NC_000006.10:g.133831421G>A	NCBI36
NG_011596.1:g.232234G>A
NG_011596.2:g.232234G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525849.7:c.760G>A	ENSP00000433219.1:p.Gly254Ser
ENST00000706301.1:c.667G>A	ENSP00000516341.1:p.Gly223Ser
ENST00000355167.8:c.667G>A	ENSP00000347294.4:p.Gly223Ser
ENST00000497350.3:n.1060G>A
ENST00000683325.1:c.352G>A	ENSP00000508141.1:p.Gly118Ser
ENST00000683664.1:n.795G>A
ENST00000684773.1:c.352G>A	ENSP00000506812.1:p.Gly118Ser
ENST00000355286.12:c.829G>A MANE Select	ENSP00000347434.7:p.Gly277Ser
ENST00000431403.3:c.760G>A	ENSP00000404558.3:p.Gly254Ser
ENST00000525849.6:c.760G>A	ENSP00000433219.1:p.Gly254Ser
ENST00000355167.7:c.829G>A	ENSP00000347294.3:p.Gly277Ser
ENST00000355286.10:c.760G>A	ENSP00000347434.6:p.Gly254Ser
ENST00000367895.9:c.829G>A	ENSP00000356870.5:p.Gly277Ser
ENST00000430974.6:c.667G>A	ENSP00000388670.2:p.Gly223Ser
ENST00000431403.2:c.829G>A	ENSP00000404558.2:p.Gly277Ser
ENST00000452339.6:c.667G>A	ENSP00000395916.2:p.Gly223Ser
ENST00000525849.5:c.760G>A	ENSP00000433219.1:p.Gly254Ser
ENST00000531861.5:n.829G>A
ENST00000531901.5:c.829G>A	ENSP00000432770.1:p.Gly277Ser
ENST00000532518.1:n.157G>A
NM_001301012.1:c.667G>A	NP_001287941.1:p.Gly223Ser
NM_001301013.1:c.829G>A	NP_001287942.1:p.Gly277Ser
NM_004100.4:c.829G>A	NP_004091.3:p.Gly277Ser
NM_172103.3:c.760G>A	NP_742101.2:p.Gly254Ser
NM_172105.3:c.829G>A	NP_742103.1:p.Gly277Ser
XM_005266851.3:c.829G>A	XP_005266908.1:p.Gly277Ser
XM_005266852.3:c.829G>A	XP_005266909.1:p.Gly277Ser
XM_005266853.3:c.760G>A	XP_005266910.1:p.Gly254Ser
XM_011535540.1:c.760G>A	XP_011533842.1:p.Gly254Ser
XM_011535541.1:c.745G>A	XP_011533843.1:p.Gly249Ser
XM_011535542.1:c.667G>A	XP_011533844.1:p.Gly223Ser
XM_005266851.5:c.829G>A	XP_005266908.1:p.Gly277Ser
XM_005266853.5:c.760G>A	XP_005266910.1:p.Gly254Ser
XM_017010368.2:c.829G>A	XP_016865857.1:p.Gly277Ser
XM_017010369.2:c.829G>A	XP_016865858.1:p.Gly277Ser
XM_017010370.2:c.760G>A	XP_016865859.1:p.Gly254Ser
XM_017010371.2:c.745G>A	XP_016865860.1:p.Gly249Ser
XM_017010372.2:c.667G>A	XP_016865861.1:p.Gly223Ser
XM_017010373.2:c.667G>A	XP_016865862.1:p.Gly223Ser
XM_017010374.2:c.667G>A	XP_016865863.1:p.Gly223Ser
XM_017010375.1:c.667G>A	XP_016865864.1:p.Gly223Ser
XR_001743219.2:n.991G>A
XR_001743220.2:n.991G>A
NM_004100.5:c.829G>A MANE Select	NP_004091.3:p.Gly277Ser
NM_001370458.1:c.760G>A	NP_001357387.1:p.Gly254Ser
NM_001370459.1:c.667G>A	NP_001357388.1:p.Gly223Ser
NM_001301012.2:c.667G>A	NP_001287941.1:p.Gly223Ser
NM_001301013.2:c.829G>A	NP_001287942.1:p.Gly277Ser
NM_172103.4:c.760G>A	NP_742101.2:p.Gly254Ser
NM_172105.4:c.829G>A	NP_742103.1:p.Gly277Ser