Canonical Allele Identifier: CA394325645
Gene: PKD1 HGNC NCBI

Linked Data

dbSNP Id: rs1288699577
gnomAD v3: 16-2090434-G-C
gnomAD v4: 16-2090434-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2090434G>C , CM000678.2:g.2090434G>C GRCh38
NC_000016.9:g.2140435G>C , CM000678.1:g.2140435G>C GRCh37
NC_000016.8:g.2080436G>C NCBI36
NG_005895.1:g.46129G>C , LRG_487:g.46129G>C
NG_008617.1:g.52787C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262304.9:c.12295C>G MANE Select ENSP00000262304.4:p.Leu4099Val
ENST00000262304.8:c.12295C>G ENSP00000262304.4:p.Leu4099Val
ENST00000423118.5:c.12292C>G ENSP00000399501.1:p.Leu4098Val
ENST00000472577.1:n.323C>G
NM_000296.3:c.12292C>G NP_000287.3:p.Leu4098Val
NM_001009944.2:c.12295C>G NP_001009944.2:p.Leu4099Val
XM_005255370.2:c.9250C>G XP_005255427.1:p.Leu3084Val
XM_011522525.1:c.12373C>G XP_011520827.1:p.Leu4125Val
XM_011522526.1:c.12370C>G XP_011520828.1:p.Leu4124Val
XM_011522527.1:c.12355C>G XP_011520829.1:p.Leu4119Val
XM_011522528.1:c.12349C>G XP_011520830.1:p.Leu4117Val
XM_011522529.1:c.12346C>G XP_011520831.1:p.Leu4116Val
XM_011522530.1:c.12319C>G XP_011520832.1:p.Leu4107Val
XM_011522531.1:c.12301C>G XP_011520833.1:p.Leu4101Val
XM_011522532.1:c.12247C>G XP_011520834.1:p.Leu4083Val
XM_011522533.1:c.12166C>G XP_011520835.1:p.Leu4056Val
XM_011522534.1:c.12109C>G XP_011520836.1:p.Leu4037Val
XM_011522535.1:c.10195C>G XP_011520837.1:p.Leu3399Val
XM_011522537.1:c.9373C>G XP_011520839.1:p.Leu3125Val
XR_932867.1:n.12213C>G
XM_005255370.3:c.9250C>G XP_005255427.1:p.Leu3084Val
XM_011522528.3:c.12349C>G XP_011520830.1:p.Leu4117Val
XM_011522529.2:c.12346C>G XP_011520831.1:p.Leu4116Val
XM_011522537.2:c.9373C>G XP_011520839.1:p.Leu3125Val
XM_024450298.1:c.12415C>G XP_024306066.1:p.Leu4139Val
XM_024450299.1:c.12343C>G XP_024306067.1:p.Leu4115Val
XM_024450300.1:c.12205C>G XP_024306068.1:p.Leu4069Val
XM_024450301.1:c.10291C>G XP_024306069.1:p.Leu3431Val
NM_000296.4:c.12292C>G NP_000287.4:p.Leu4098Val
NM_001009944.3:c.12295C>G MANE Select NP_001009944.3:p.Leu4099Val