Canonical Allele Identifier: CA3851085
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 582719
ClinVar RCV Id: RCV000706858
dbSNP Id: rs748863662
gnomAD v2: 6-51524522-T-C
gnomAD v3: 6-51659724-T-C
gnomAD v4: 6-51659724-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659724T>C , CM000668.2:g.51659724T>C GRCh38
NC_000006.11:g.51524522T>C , CM000668.1:g.51524522T>C GRCh37
NC_000006.10:g.51632481T>C NCBI36
NG_008753.1:g.432902A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.10402A>G MANE Select ENSP00000360158.3:p.Ile3468Val
ENST00000371117.7:c.10402A>G ENSP00000360158.3:p.Ile3468Val
NM_138694.3:c.10402A>G NP_619639.3:p.Ile3468Val
XM_011514679.1:c.10402A>G XP_011512981.1:p.Ile3468Val
XM_011514680.1:c.10402A>G XP_011512982.1:p.Ile3468Val
XM_011514681.1:c.10273A>G XP_011512983.1:p.Ile3425Val
XM_011514682.1:c.10264A>G XP_011512984.1:p.Ile3422Val
XM_011514683.1:c.9760A>G XP_011512985.1:p.Ile3254Val
XM_011514684.1:c.9691A>G XP_011512986.1:p.Ile3231Val
XM_011514687.1:c.10157-10504A>G XP_011512989.1:n.10157-10504A>G
XM_011514690.1:c.4477A>G XP_011512992.1:p.Ile1493Val
XM_011514691.1:c.4477A>G XP_011512993.1:p.Ile1493Val
XR_926870.1:n.535+7351T>C
XR_926871.1:n.403+7351T>C
XR_926872.1:n.535+7351T>C
XM_011514680.3:c.10402A>G XP_011512982.1:p.Ile3468Val
XM_011514682.3:c.10264A>G XP_011512984.1:p.Ile3422Val
XM_011514683.3:c.9760A>G XP_011512985.1:p.Ile3254Val
XM_011514684.3:c.9691A>G XP_011512986.1:p.Ile3231Val
XM_011514690.3:c.4477A>G XP_011512992.1:p.Ile1493Val
XM_011514691.3:c.4477A>G XP_011512993.1:p.Ile1493Val
XM_017010944.2:c.10402A>G XP_016866433.1:p.Ile3468Val
XM_017010945.2:c.10327A>G XP_016866434.1:p.Ile3443Val
XM_017010946.2:c.10207A>G XP_016866435.1:p.Ile3403Val
XM_017010947.2:c.10138A>G XP_016866436.1:p.Ile3380Val
XM_017010948.2:c.9691A>G XP_016866437.1:p.Ile3231Val
XM_017010949.2:c.8542A>G XP_016866438.1:p.Ile2848Val
XR_001743469.1:n.10678A>G
XR_001744157.1:n.3145+7351T>C
XR_926870.2:n.3145+7351T>C
XR_926871.2:n.3013+7351T>C
XR_926872.2:n.3145+7351T>C
NM_138694.4:c.10402A>G MANE Select NP_619639.3:p.Ile3468Val