Canonical Allele Identifier: CA351895

Gene: EYA4

Linked Data

• ClinVar Variation Id: 222599
• ClinVar RCV Id: RCV000208255
• dbSNP Id: rs869025402
• COSMIC: COSM1487233 ; COSM1487234
• MyVariant Identifiers: chr6:g.133783840G>A (hg19) ; chr6:g.133462702G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133462702G>A , CM000668.2:g.133462702G>A	GRCh38
NC_000006.11:g.133783840G>A , CM000668.1:g.133783840G>A	GRCh37
NC_000006.10:g.133825533G>A	NCBI36
NG_011596.1:g.226346G>A
NG_011596.2:g.226346G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525849.7:c.593G>A	ENSP00000433219.1:p.Ser198Asn
ENST00000706301.1:c.500G>A	ENSP00000516341.1:p.Ser167Asn
ENST00000355167.8:c.500G>A	ENSP00000347294.4:p.Ser167Asn
ENST00000497350.3:n.893G>A
ENST00000683325.1:c.185G>A	ENSP00000508141.1:p.Ser62Asn
ENST00000683664.1:n.628G>A
ENST00000684773.1:c.185G>A	ENSP00000506812.1:p.Ser62Asn
ENST00000355286.12:c.662G>A MANE Select	ENSP00000347434.7:p.Ser221Asn
ENST00000431403.3:c.593G>A	ENSP00000404558.3:p.Ser198Asn
ENST00000525849.6:c.593G>A	ENSP00000433219.1:p.Ser198Asn
ENST00000355167.7:c.662G>A	ENSP00000347294.3:p.Ser221Asn
ENST00000355286.10:c.593G>A	ENSP00000347434.6:p.Ser198Asn
ENST00000367895.9:c.662G>A	ENSP00000356870.5:p.Ser221Asn
ENST00000421413.6:n.735G>A
ENST00000430974.6:c.500G>A	ENSP00000388670.2:p.Ser167Asn
ENST00000431403.2:c.662G>A	ENSP00000404558.2:p.Ser221Asn
ENST00000452339.6:c.500G>A	ENSP00000395916.2:p.Ser167Asn
ENST00000497350.2:n.439G>A
ENST00000525849.5:c.593G>A	ENSP00000433219.1:p.Ser198Asn
ENST00000531861.5:n.662G>A
ENST00000531901.5:c.662G>A	ENSP00000432770.1:p.Ser221Asn
NM_001301012.1:c.500G>A	NP_001287941.1:p.Ser167Asn
NM_001301013.1:c.662G>A	NP_001287942.1:p.Ser221Asn
NM_004100.4:c.662G>A	NP_004091.3:p.Ser221Asn
NM_172103.3:c.593G>A	NP_742101.2:p.Ser198Asn
NM_172105.3:c.662G>A	NP_742103.1:p.Ser221Asn
XM_005266851.3:c.662G>A	XP_005266908.1:p.Ser221Asn
XM_005266852.3:c.662G>A	XP_005266909.1:p.Ser221Asn
XM_005266853.3:c.593G>A	XP_005266910.1:p.Ser198Asn
XM_011535540.1:c.593G>A	XP_011533842.1:p.Ser198Asn
XM_011535541.1:c.578G>A	XP_011533843.1:p.Ser193Asn
XM_011535542.1:c.500G>A	XP_011533844.1:p.Ser167Asn
XM_005266851.5:c.662G>A	XP_005266908.1:p.Ser221Asn
XM_005266853.5:c.593G>A	XP_005266910.1:p.Ser198Asn
XM_017010368.2:c.662G>A	XP_016865857.1:p.Ser221Asn
XM_017010369.2:c.662G>A	XP_016865858.1:p.Ser221Asn
XM_017010370.2:c.593G>A	XP_016865859.1:p.Ser198Asn
XM_017010371.2:c.578G>A	XP_016865860.1:p.Ser193Asn
XM_017010372.2:c.500G>A	XP_016865861.1:p.Ser167Asn
XM_017010373.2:c.500G>A	XP_016865862.1:p.Ser167Asn
XM_017010374.2:c.500G>A	XP_016865863.1:p.Ser167Asn
XM_017010375.1:c.500G>A	XP_016865864.1:p.Ser167Asn
XR_001743219.2:n.824G>A
XR_001743220.2:n.824G>A
NM_004100.5:c.662G>A MANE Select	NP_004091.3:p.Ser221Asn
NM_001370458.1:c.593G>A	NP_001357387.1:p.Ser198Asn
NM_001370459.1:c.500G>A	NP_001357388.1:p.Ser167Asn
NM_001301012.2:c.500G>A	NP_001287941.1:p.Ser167Asn
NM_001301013.2:c.662G>A	NP_001287942.1:p.Ser221Asn
NM_172103.4:c.593G>A	NP_742101.2:p.Ser198Asn
NM_172105.4:c.662G>A	NP_742103.1:p.Ser221Asn