Canonical Allele Identifier: CA16604856

Linked Data

ClinVar Variation Id: 391251
ClinVar RCV Id: RCV000437775
dbSNP Id: rs1057524017

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.133515356C>T , CM000668.2:g.133515356C>T GRCh38
NC_000006.11:g.133836494C>T , CM000668.1:g.133836494C>T GRCh37
NC_000006.10:g.133878187C>T NCBI36
NG_011596.1:g.279000C>T
NG_011596.2:g.279000C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525849.7:c.1468C>T (EYA4) ENSP00000433219.1:p.Gln490Ter
ENST00000706301.1:c.1375C>T (EYA4) ENSP00000516341.1:p.Gln459Ter
ENST00000355167.8:c.1393C>T (EYA4) ENSP00000347294.4:p.Gln465Ter
ENST00000683325.1:c.*110C>T (EYA4) ENSP00000508141.1:n.*110C>T
ENST00000683674.1:n.438C>T (EYA4)
ENST00000684773.1:c.1060C>T (EYA4) ENSP00000506812.1:p.Gln354Ter
ENST00000355286.12:c.1537C>T (EYA4) MANE Select ENSP00000347434.7:p.Gln513Ter
ENST00000431403.3:c.1468C>T (EYA4) ENSP00000404558.3:p.Gln490Ter
ENST00000525849.6:c.1468C>T (EYA4) ENSP00000433219.1:p.Gln490Ter
ENST00000355167.7:c.1537C>T (EYA4) ENSP00000347294.3:p.Gln513Ter
ENST00000355286.10:c.1468C>T (EYA4) ENSP00000347434.6:p.Gln490Ter
ENST00000367895.9:c.1537C>T (EYA4) ENSP00000356870.5:p.Gln513Ter
ENST00000430974.6:c.1393C>T (EYA4) ENSP00000388670.2:p.Gln465Ter
ENST00000431403.2:c.1537C>T (EYA4) ENSP00000404558.2:p.Gln513Ter
ENST00000452339.6:c.1375C>T (EYA4) ENSP00000395916.2:p.Gln459Ter
ENST00000525849.5:c.1468C>T (EYA4) ENSP00000433219.1:p.Gln490Ter
ENST00000531901.5:c.1555C>T (EYA4) ENSP00000432770.1:p.Gln519Ter
NM_001301012.1:c.1375C>T (EYA4) NP_001287941.1:p.Gln459Ter
NM_001301013.1:c.1555C>T (EYA4) NP_001287942.1:p.Gln519Ter
NM_004100.4:c.1537C>T (EYA4) NP_004091.3:p.Gln513Ter
NM_172103.3:c.1468C>T (EYA4) NP_742101.2:p.Gln490Ter
NM_172105.3:c.1537C>T (EYA4) NP_742103.1:p.Gln513Ter
NR_109982.1:n.2286-8035G>A (TARID)
XM_005266851.3:c.1555C>T (EYA4) XP_005266908.1:p.Gln519Ter
XM_005266852.3:c.1555C>T (EYA4) XP_005266909.1:p.Gln519Ter
XM_005266853.3:c.1468C>T (EYA4) XP_005266910.1:p.Gln490Ter
XM_011535540.1:c.1486C>T (EYA4) XP_011533842.1:p.Gln496Ter
XM_011535541.1:c.1471C>T (EYA4) XP_011533843.1:p.Gln491Ter
XM_011535542.1:c.1393C>T (EYA4) XP_011533844.1:p.Gln465Ter
XM_005266851.5:c.1555C>T (EYA4) XP_005266908.1:p.Gln519Ter
XM_005266853.5:c.1468C>T (EYA4) XP_005266910.1:p.Gln490Ter
XM_017010368.2:c.1555C>T (EYA4) XP_016865857.1:p.Gln519Ter
XM_017010369.2:c.1537C>T (EYA4) XP_016865858.1:p.Gln513Ter
XM_017010370.2:c.1486C>T (EYA4) XP_016865859.1:p.Gln496Ter
XM_017010371.2:c.1471C>T (EYA4) XP_016865860.1:p.Gln491Ter
XM_017010372.2:c.1393C>T (EYA4) XP_016865861.1:p.Gln465Ter
XM_017010373.2:c.1375C>T (EYA4) XP_016865862.1:p.Gln459Ter
XM_017010374.2:c.1393C>T (EYA4) XP_016865863.1:p.Gln465Ter
XM_017010375.1:c.1393C>T (EYA4) XP_016865864.1:p.Gln465Ter
XR_001743219.2:n.1649C>T (EYA4)
XR_001743220.2:n.1631C>T (EYA4)
NM_004100.5:c.1537C>T (EYA4) MANE Select NP_004091.3:p.Gln513Ter
NM_001370458.1:c.1468C>T (EYA4) NP_001357387.1:p.Gln490Ter
NM_001370459.1:c.1393C>T (EYA4) NP_001357388.1:p.Gln465Ter
NM_001301012.2:c.1375C>T (EYA4) NP_001287941.1:p.Gln459Ter
NM_001301013.2:c.1555C>T (EYA4) NP_001287942.1:p.Gln519Ter
NM_172103.4:c.1468C>T (EYA4) NP_742101.2:p.Gln490Ter
NM_172105.4:c.1537C>T (EYA4) NP_742103.1:p.Gln513Ter