Canonical Allele Identifier: CA10576681
Gene: EYA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 228260
ClinVar RCV Id: RCV000223505
dbSNP Id: rs876657644
MyVariant Identifiers: chr6:g.133782250A>C (hg19) chr6:g.133461112A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.133461112A>C , CM000668.2:g.133461112A>C GRCh38
NC_000006.11:g.133782250A>C , CM000668.1:g.133782250A>C GRCh37
NC_000006.10:g.133823943A>C NCBI36
NG_011596.1:g.224756A>C
NG_011596.2:g.224756A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525849.7:c.302-2A>C ENSP00000433219.1:n.302-2A>C
ENST00000706301.1:c.209-2A>C ENSP00000516341.1:n.209-2A>C
ENST00000355167.8:c.209-2A>C ENSP00000347294.4:n.209-2A>C
ENST00000683664.1:n.337-2A>C
ENST00000684773.1:c.-107-2A>C ENSP00000506812.1:n.-107-2A>C
ENST00000355286.12:c.371-2A>C MANE Select ENSP00000347434.7:n.371-2A>C
ENST00000431403.3:c.302-2A>C ENSP00000404558.3:n.302-2A>C
ENST00000525614.2:n.546-2A>C
ENST00000525849.6:c.302-2A>C ENSP00000433219.1:n.302-2A>C
ENST00000355167.7:c.371-2A>C ENSP00000347294.3:n.371-2A>C
ENST00000355286.10:c.302-2A>C ENSP00000347434.6:n.302-2A>C
ENST00000367895.9:c.371-2A>C ENSP00000356870.5:n.371-2A>C
ENST00000421413.6:n.473-2A>C
ENST00000430974.6:c.209-2A>C ENSP00000388670.2:n.209-2A>C
ENST00000431403.2:c.371-2A>C ENSP00000404558.2:n.371-2A>C
ENST00000452339.6:c.209-2A>C ENSP00000395916.2:n.209-2A>C
ENST00000525614.1:n.546-2A>C
ENST00000525849.5:c.302-2A>C ENSP00000433219.1:n.302-2A>C
ENST00000531861.5:n.371-2A>C
ENST00000531901.5:c.371-2A>C ENSP00000432770.1:n.371-2A>C
NM_001301012.1:c.209-2A>C NP_001287941.1:n.209-2A>C
NM_001301013.1:c.371-2A>C NP_001287942.1:n.371-2A>C
NM_004100.4:c.371-2A>C NP_004091.3:n.371-2A>C
NM_172103.3:c.302-2A>C NP_742101.2:n.302-2A>C
NM_172105.3:c.371-2A>C NP_742103.1:n.371-2A>C
XM_005266851.3:c.371-2A>C XP_005266908.1:n.371-2A>C
XM_005266852.3:c.371-2A>C XP_005266909.1:n.371-2A>C
XM_005266853.3:c.302-2A>C XP_005266910.1:n.302-2A>C
XM_011535540.1:c.302-2A>C XP_011533842.1:n.302-2A>C
XM_011535541.1:c.287-2A>C XP_011533843.1:n.287-2A>C
XM_011535542.1:c.209-2A>C XP_011533844.1:n.209-2A>C
XM_005266851.5:c.371-2A>C XP_005266908.1:n.371-2A>C
XM_005266853.5:c.302-2A>C XP_005266910.1:n.302-2A>C
XM_017010368.2:c.371-2A>C XP_016865857.1:n.371-2A>C
XM_017010369.2:c.371-2A>C XP_016865858.1:n.371-2A>C
XM_017010370.2:c.302-2A>C XP_016865859.1:n.302-2A>C
XM_017010371.2:c.287-2A>C XP_016865860.1:n.287-2A>C
XM_017010372.2:c.209-2A>C XP_016865861.1:n.209-2A>C
XM_017010373.2:c.209-2A>C XP_016865862.1:n.209-2A>C
XM_017010374.2:c.209-2A>C XP_016865863.1:n.209-2A>C
XM_017010375.1:c.209-2A>C XP_016865864.1:n.209-2A>C
XR_001743219.2:n.533-2A>C
XR_001743220.2:n.533-2A>C
NM_004100.5:c.371-2A>C MANE Select NP_004091.3:n.371-2A>C
NM_001370458.1:c.302-2A>C NP_001357387.1:n.302-2A>C
NM_001370459.1:c.209-2A>C NP_001357388.1:n.209-2A>C
NM_001301012.2:c.209-2A>C NP_001287941.1:n.209-2A>C
NM_001301013.2:c.371-2A>C NP_001287942.1:n.371-2A>C
NM_172103.4:c.302-2A>C NP_742101.2:n.302-2A>C
NM_172105.4:c.371-2A>C NP_742103.1:n.371-2A>C
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