Canonical Allele Identifier: CA4008247

Gene: EYA4

Linked Data

• dbSNP Id: rs745335523
• ExAC: 6:133802785 C / T
• gnomAD v2: 6-133802785-C-T
• gnomAD v3: 6-133481647-C-T
• gnomAD v4: 6-133481647-C-T
• MyVariant Identifiers: chr6:g.133802785C>T (hg19) ; chr6:g.133481647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133481647C>T , CM000668.2:g.133481647C>T	GRCh38
NC_000006.11:g.133802785C>T , CM000668.1:g.133802785C>T	GRCh37
NC_000006.10:g.133844478C>T	NCBI36
NG_011596.1:g.245291C>T
NG_011596.2:g.245291C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525849.7:c.1038+48C>T	ENSP00000433219.1:n.1038+48C>T
ENST00000706301.1:c.945+48C>T	ENSP00000516341.1:n.945+48C>T
ENST00000355167.8:c.963+48C>T	ENSP00000347294.4:n.963+48C>T
ENST00000683325.1:c.630+48C>T	ENSP00000508141.1:n.630+48C>T
ENST00000683674.1:n.8+48C>T
ENST00000684773.1:c.630+48C>T	ENSP00000506812.1:n.630+48C>T
ENST00000355286.12:c.1107+48C>T MANE Select	ENSP00000347434.7:n.1107+48C>T
ENST00000431403.3:c.1038+48C>T	ENSP00000404558.3:n.1038+48C>T
ENST00000525849.6:c.1038+48C>T	ENSP00000433219.1:n.1038+48C>T
ENST00000355167.7:c.1107+48C>T	ENSP00000347294.3:n.1107+48C>T
ENST00000355286.10:c.1038+48C>T	ENSP00000347434.6:n.1038+48C>T
ENST00000367895.9:c.1107+48C>T	ENSP00000356870.5:n.1107+48C>T
ENST00000430974.6:c.963+48C>T	ENSP00000388670.2:n.963+48C>T
ENST00000431403.2:c.1107+48C>T	ENSP00000404558.2:n.1107+48C>T
ENST00000452339.6:c.945+48C>T	ENSP00000395916.2:n.945+48C>T
ENST00000525849.5:c.1038+48C>T	ENSP00000433219.1:n.1038+48C>T
ENST00000531861.5:n.1107+48C>T
ENST00000531901.5:c.1125+48C>T	ENSP00000432770.1:n.1125+48C>T
ENST00000532518.1:n.453+48C>T
NM_001301012.1:c.945+48C>T	NP_001287941.1:n.945+48C>T
NM_001301013.1:c.1125+48C>T	NP_001287942.1:n.1125+48C>T
NM_004100.4:c.1107+48C>T	NP_004091.3:n.1107+48C>T
NM_172103.3:c.1038+48C>T	NP_742101.2:n.1038+48C>T
NM_172105.3:c.1107+48C>T	NP_742103.1:n.1107+48C>T
XM_005266851.3:c.1125+48C>T	XP_005266908.1:n.1125+48C>T
XM_005266852.3:c.1125+48C>T	XP_005266909.1:n.1125+48C>T
XM_005266853.3:c.1038+48C>T	XP_005266910.1:n.1038+48C>T
XM_011535540.1:c.1056+48C>T	XP_011533842.1:n.1056+48C>T
XM_011535541.1:c.1041+48C>T	XP_011533843.1:n.1041+48C>T
XM_011535542.1:c.963+48C>T	XP_011533844.1:n.963+48C>T
XM_005266851.5:c.1125+48C>T	XP_005266908.1:n.1125+48C>T
XM_005266853.5:c.1038+48C>T	XP_005266910.1:n.1038+48C>T
XM_017010368.2:c.1125+48C>T	XP_016865857.1:n.1125+48C>T
XM_017010369.2:c.1107+48C>T	XP_016865858.1:n.1107+48C>T
XM_017010370.2:c.1056+48C>T	XP_016865859.1:n.1056+48C>T
XM_017010371.2:c.1041+48C>T	XP_016865860.1:n.1041+48C>T
XM_017010372.2:c.963+48C>T	XP_016865861.1:n.963+48C>T
XM_017010373.2:c.945+48C>T	XP_016865862.1:n.945+48C>T
XM_017010374.2:c.963+48C>T	XP_016865863.1:n.963+48C>T
XM_017010375.1:c.963+48C>T	XP_016865864.1:n.963+48C>T
XR_001743219.2:n.1287+48C>T
XR_001743220.2:n.1269+48C>T
NM_004100.5:c.1107+48C>T MANE Select	NP_004091.3:n.1107+48C>T
NM_001370458.1:c.1038+48C>T	NP_001357387.1:n.1038+48C>T
NM_001370459.1:c.963+48C>T	NP_001357388.1:n.963+48C>T
NM_001301012.2:c.945+48C>T	NP_001287941.1:n.945+48C>T
NM_001301013.2:c.1125+48C>T	NP_001287942.1:n.1125+48C>T
NM_172103.4:c.1038+48C>T	NP_742101.2:n.1038+48C>T
NM_172105.4:c.1107+48C>T	NP_742103.1:n.1107+48C>T