Canonical Allele Identifier: CA10625991

Gene: EYA4

Linked Data

• ClinVar Variation Id: 355445
• ClinVar RCV Id: RCV000288938 ; RCV000343964
• dbSNP Id: rs886061089
• gnomAD v2: 6-133789874-A-G
• gnomAD v4: 6-133468736-A-G
• COSMIC: COSM5788145 ; COSM5788146
• MyVariant Identifiers: chr6:g.133789874A>G (hg19) ; chr6:g.133468736A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133468736A>G , CM000668.2:g.133468736A>G	GRCh38
NC_000006.11:g.133789874A>G , CM000668.1:g.133789874A>G	GRCh37
NC_000006.10:g.133831567A>G	NCBI36
NG_011596.1:g.232380A>G
NG_011596.2:g.232380A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525849.7:c.901+5A>G	ENSP00000433219.1:n.901+5A>G
ENST00000706301.1:c.808+5A>G	ENSP00000516341.1:n.808+5A>G
ENST00000355167.8:c.813A>G	ENSP00000347294.4:p.Thr271=
ENST00000497350.3:n.1201+5A>G
ENST00000683325.1:c.493+5A>G	ENSP00000508141.1:n.493+5A>G
ENST00000683664.1:n.941A>G
ENST00000684773.1:c.493+5A>G	ENSP00000506812.1:n.493+5A>G
ENST00000355286.12:c.970+5A>G MANE Select	ENSP00000347434.7:n.970+5A>G
ENST00000431403.3:c.901+5A>G	ENSP00000404558.3:n.901+5A>G
ENST00000525849.6:c.901+5A>G	ENSP00000433219.1:n.901+5A>G
ENST00000355167.7:c.970+5A>G	ENSP00000347294.3:n.970+5A>G
ENST00000355286.10:c.901+5A>G	ENSP00000347434.6:n.901+5A>G
ENST00000367895.9:c.970+5A>G	ENSP00000356870.5:n.970+5A>G
ENST00000430974.6:c.813A>G	ENSP00000388670.2:p.Thr271=
ENST00000431403.2:c.970+5A>G	ENSP00000404558.2:n.970+5A>G
ENST00000452339.6:c.808+5A>G	ENSP00000395916.2:n.808+5A>G
ENST00000525849.5:c.901+5A>G	ENSP00000433219.1:n.901+5A>G
ENST00000531861.5:n.970+5A>G
ENST00000531901.5:c.975A>G	ENSP00000432770.1:p.Thr325=
ENST00000532518.1:n.303A>G
NM_001301012.1:c.808+5A>G	NP_001287941.1:n.808+5A>G
NM_001301013.1:c.975A>G	NP_001287942.1:p.Thr325=
NM_004100.4:c.970+5A>G	NP_004091.3:n.970+5A>G
NM_172103.3:c.901+5A>G	NP_742101.2:n.901+5A>G
NM_172105.3:c.970+5A>G	NP_742103.1:n.970+5A>G
XM_005266851.3:c.975A>G	XP_005266908.1:p.Thr325=
XM_005266852.3:c.975A>G	XP_005266909.1:p.Thr325=
XM_005266853.3:c.901+5A>G	XP_005266910.1:n.901+5A>G
XM_011535540.1:c.906A>G	XP_011533842.1:p.Thr302=
XM_011535541.1:c.891A>G	XP_011533843.1:p.Thr297=
XM_011535542.1:c.813A>G	XP_011533844.1:p.Thr271=
XM_005266851.5:c.975A>G	XP_005266908.1:p.Thr325=
XM_005266853.5:c.901+5A>G	XP_005266910.1:n.901+5A>G
XM_017010368.2:c.975A>G	XP_016865857.1:p.Thr325=
XM_017010369.2:c.970+5A>G	XP_016865858.1:n.970+5A>G
XM_017010370.2:c.906A>G	XP_016865859.1:p.Thr302=
XM_017010371.2:c.891A>G	XP_016865860.1:p.Thr297=
XM_017010372.2:c.813A>G	XP_016865861.1:p.Thr271=
XM_017010373.2:c.808+5A>G	XP_016865862.1:n.808+5A>G
XM_017010374.2:c.813A>G	XP_016865863.1:p.Thr271=
XM_017010375.1:c.813A>G	XP_016865864.1:p.Thr271=
XR_001743219.2:n.1137A>G
XR_001743220.2:n.1132+5A>G
NM_004100.5:c.970+5A>G MANE Select	NP_004091.3:n.970+5A>G
NM_001370458.1:c.901+5A>G	NP_001357387.1:n.901+5A>G
NM_001370459.1:c.813A>G	NP_001357388.1:p.Thr271=
NM_001301012.2:c.808+5A>G	NP_001287941.1:n.808+5A>G
NM_001301013.2:c.975A>G	NP_001287942.1:p.Thr325=
NM_172103.4:c.901+5A>G	NP_742101.2:n.901+5A>G
NM_172105.4:c.970+5A>G	NP_742103.1:n.970+5A>G