Canonical Allele Identifier: CA365715322

Gene: EYA4 TARID

Linked Data

• ClinVar Variation Id: 534388
• ClinVar RCV Id: RCV000641932 ; RCV000991976 ; RCV002388083
• dbSNP Id: rs1187396214
• gnomAD v3: 6-133512971-G-T
• gnomAD v4: 6-133512971-G-T
• MyVariant Identifiers: chr6:g.133834109G>T (hg19) ; chr6:g.133512971G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.133512971G>T , CM000668.2:g.133512971G>T	GRCh38
NC_000006.11:g.133834109G>T , CM000668.1:g.133834109G>T	GRCh37
NC_000006.10:g.133875802G>T	NCBI36
NG_011596.1:g.276615G>T
NG_011596.2:g.276615G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525849.7:c.1365G>T (EYA4)	ENSP00000433219.1:p.Met455Ile
ENST00000706301.1:c.1272G>T (EYA4)	ENSP00000516341.1:p.Met424Ile
ENST00000355167.8:c.1290G>T (EYA4)	ENSP00000347294.4:p.Met430Ile
ENST00000683325.1:c.*7G>T (EYA4)	ENSP00000508141.1:n.*7G>T
ENST00000683674.1:n.335G>T (EYA4)
ENST00000684773.1:c.957G>T (EYA4)	ENSP00000506812.1:p.Met319Ile
ENST00000355286.12:c.1434G>T (EYA4) MANE Select	ENSP00000347434.7:p.Met478Ile
ENST00000431403.3:c.1365G>T (EYA4)	ENSP00000404558.3:p.Met455Ile
ENST00000525849.6:c.1365G>T (EYA4)	ENSP00000433219.1:p.Met455Ile
ENST00000355167.7:c.1434G>T (EYA4)	ENSP00000347294.3:p.Met478Ile
ENST00000355286.10:c.1365G>T (EYA4)	ENSP00000347434.6:p.Met455Ile
ENST00000367895.9:c.1434G>T (EYA4)	ENSP00000356870.5:p.Met478Ile
ENST00000430974.6:c.1290G>T (EYA4)	ENSP00000388670.2:p.Met430Ile
ENST00000431403.2:c.1434G>T (EYA4)	ENSP00000404558.2:p.Met478Ile
ENST00000452339.6:c.1272G>T (EYA4)	ENSP00000395916.2:p.Met424Ile
ENST00000525849.5:c.1365G>T (EYA4)	ENSP00000433219.1:p.Met455Ile
ENST00000531901.5:c.1452G>T (EYA4)	ENSP00000432770.1:p.Met484Ile
ENST00000532518.1:n.712G>T (EYA4)
NM_001301012.1:c.1272G>T (EYA4)	NP_001287941.1:p.Met424Ile
NM_001301013.1:c.1452G>T (EYA4)	NP_001287942.1:p.Met484Ile
NM_004100.4:c.1434G>T (EYA4)	NP_004091.3:p.Met478Ile
NM_172103.3:c.1365G>T (EYA4)	NP_742101.2:p.Met455Ile
NM_172105.3:c.1434G>T (EYA4)	NP_742103.1:p.Met478Ile
NR_109982.1:n.2286-5650C>A (TARID)
XM_005266851.3:c.1452G>T (EYA4)	XP_005266908.1:p.Met484Ile
XM_005266852.3:c.1452G>T (EYA4)	XP_005266909.1:p.Met484Ile
XM_005266853.3:c.1365G>T (EYA4)	XP_005266910.1:p.Met455Ile
XM_011535540.1:c.1383G>T (EYA4)	XP_011533842.1:p.Met461Ile
XM_011535541.1:c.1368G>T (EYA4)	XP_011533843.1:p.Met456Ile
XM_011535542.1:c.1290G>T (EYA4)	XP_011533844.1:p.Met430Ile
XM_005266851.5:c.1452G>T (EYA4)	XP_005266908.1:p.Met484Ile
XM_005266853.5:c.1365G>T (EYA4)	XP_005266910.1:p.Met455Ile
XM_017010368.2:c.1452G>T (EYA4)	XP_016865857.1:p.Met484Ile
XM_017010369.2:c.1434G>T (EYA4)	XP_016865858.1:p.Met478Ile
XM_017010370.2:c.1383G>T (EYA4)	XP_016865859.1:p.Met461Ile
XM_017010371.2:c.1368G>T (EYA4)	XP_016865860.1:p.Met456Ile
XM_017010372.2:c.1290G>T (EYA4)	XP_016865861.1:p.Met430Ile
XM_017010373.2:c.1272G>T (EYA4)	XP_016865862.1:p.Met424Ile
XM_017010374.2:c.1290G>T (EYA4)	XP_016865863.1:p.Met430Ile
XM_017010375.1:c.1290G>T (EYA4)	XP_016865864.1:p.Met430Ile
XR_001743219.2:n.1546G>T (EYA4)
XR_001743220.2:n.1528G>T (EYA4)
NM_004100.5:c.1434G>T (EYA4) MANE Select	NP_004091.3:p.Met478Ile
NM_001370458.1:c.1365G>T (EYA4)	NP_001357387.1:p.Met455Ile
NM_001370459.1:c.1290G>T (EYA4)	NP_001357388.1:p.Met430Ile
NM_001301012.2:c.1272G>T (EYA4)	NP_001287941.1:p.Met424Ile
NM_001301013.2:c.1452G>T (EYA4)	NP_001287942.1:p.Met484Ile
NM_172103.4:c.1365G>T (EYA4)	NP_742101.2:p.Met455Ile
NM_172105.4:c.1434G>T (EYA4)	NP_742103.1:p.Met478Ile