Canonical Allele Identifier: CA276782869
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 997280
dbSNP Id: rs1050939771
gnomAD v2: 16-2164841-T-C
gnomAD v3: 16-2114840-T-C
gnomAD v4: 16-2114840-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2114840T>C , CM000678.2:g.2114840T>C GRCh38
NC_000016.9:g.2164841T>C , CM000678.1:g.2164841T>C GRCh37
NC_000016.8:g.2104842T>C NCBI36
NG_008617.1:g.26059A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.2183A>G MANE Select ENSP00000262304.4:p.His728Arg
ENST00000262304.8:c.2183A>G ENSP00000262304.4:p.His728Arg
ENST00000423118.5:c.2183A>G ENSP00000399501.1:p.His728Arg
ENST00000488185.2:c.472+2649A>G
ENST00000568591.5:c.1114A>G ENSP00000457162.1:n.1114A>G
NM_000296.3:c.2183A>G NP_000287.3:p.His728Arg
NM_001009944.2:c.2183A>G NP_001009944.2:p.His728Arg
XM_011522525.1:c.2237A>G XP_011520827.1:p.His746Arg
XM_011522526.1:c.2237A>G XP_011520828.1:p.His746Arg
XM_011522527.1:c.2237A>G XP_011520829.1:p.His746Arg
XM_011522528.1:c.2237A>G XP_011520830.1:p.His746Arg
XM_011522529.1:c.2237A>G XP_011520831.1:p.His746Arg
XM_011522530.1:c.2183A>G XP_011520832.1:p.His728Arg
XM_011522531.1:c.2165A>G XP_011520833.1:p.His722Arg
XM_011522532.1:c.2111A>G XP_011520834.1:p.His704Arg
XM_011522533.1:c.2030A>G XP_011520835.1:p.His677Arg
XM_011522534.1:c.1973A>G XP_011520836.1:p.His658Arg
XM_011522535.1:c.59A>G XP_011520837.1:p.His20Arg
XM_011522536.1:c.2237A>G XP_011520838.1:p.His746Arg
XR_932867.1:n.2252A>G
XR_932868.1:n.2252A>G
XR_932869.1:n.2252A>G
XR_932870.1:n.2252A>G
XM_011522528.3:c.2237A>G XP_011520830.1:p.His746Arg
XM_011522529.2:c.2237A>G XP_011520831.1:p.His746Arg
XM_024450298.1:c.2183A>G XP_024306066.1:p.His728Arg
XM_024450299.1:c.2111A>G XP_024306067.1:p.His704Arg
XM_024450300.1:c.1973A>G XP_024306068.1:p.His658Arg
XM_024450301.1:c.59A>G XP_024306069.1:p.His20Arg
NM_000296.4:c.2183A>G NP_000287.4:p.His728Arg
NM_001009944.3:c.2183A>G MANE Select NP_001009944.3:p.His728Arg