Canonical Allele Identifier: CA3851379
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377018
dbSNP Id: rs200511261
gnomAD v2: 6-51612884-A-G
gnomAD v3: 6-51748086-A-G
gnomAD v4: 6-51748086-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51748086A>G , CM000668.2:g.51748086A>G GRCh38
NC_000006.11:g.51612884A>G , CM000668.1:g.51612884A>G GRCh37
NC_000006.10:g.51720843A>G NCBI36
NG_008753.1:g.344540T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.9530T>C MANE Select ENSP00000360158.3:p.Ile3177Thr
ENST00000340994.4:c.9530T>C ENSP00000341097.4:p.Ile3177Thr
ENST00000371117.7:c.9530T>C ENSP00000360158.3:p.Ile3177Thr
NM_138694.3:c.9530T>C NP_619639.3:p.Ile3177Thr
NM_170724.2:c.9530T>C NP_733842.2:p.Ile3177Thr
XM_011514679.1:c.9530T>C XP_011512981.1:p.Ile3177Thr
XM_011514680.1:c.9530T>C XP_011512982.1:p.Ile3177Thr
XM_011514681.1:c.9401T>C XP_011512983.1:p.Ile3134Thr
XM_011514682.1:c.9392T>C XP_011512984.1:p.Ile3131Thr
XM_011514683.1:c.8888T>C XP_011512985.1:p.Ile2963Thr
XM_011514684.1:c.8819T>C XP_011512986.1:p.Ile2940Thr
XM_011514685.1:c.9530T>C XP_011512987.1:p.Ile3177Thr
XM_011514686.1:c.9530T>C XP_011512988.1:p.Ile3177Thr
XM_011514687.1:c.9530T>C XP_011512989.1:p.Ile3177Thr
XM_011514688.1:c.9530T>C XP_011512990.1:p.Ile3177Thr
XM_011514690.1:c.3605T>C XP_011512992.1:p.Ile1202Thr
XM_011514691.1:c.3605T>C XP_011512993.1:p.Ile1202Thr
XM_011514680.3:c.9530T>C XP_011512982.1:p.Ile3177Thr
XM_011514682.3:c.9392T>C XP_011512984.1:p.Ile3131Thr
XM_011514683.3:c.8888T>C XP_011512985.1:p.Ile2963Thr
XM_011514684.3:c.8819T>C XP_011512986.1:p.Ile2940Thr
XM_011514686.2:c.9530T>C XP_011512988.1:p.Ile3177Thr
XM_011514688.2:c.9530T>C XP_011512990.1:p.Ile3177Thr
XM_011514690.3:c.3605T>C XP_011512992.1:p.Ile1202Thr
XM_011514691.3:c.3605T>C XP_011512993.1:p.Ile1202Thr
XM_017010944.2:c.9530T>C XP_016866433.1:p.Ile3177Thr
XM_017010945.2:c.9455T>C XP_016866434.1:p.Ile3152Thr
XM_017010946.2:c.9335T>C XP_016866435.1:p.Ile3112Thr
XM_017010947.2:c.9266T>C XP_016866436.1:p.Ile3089Thr
XM_017010948.2:c.8819T>C XP_016866437.1:p.Ile2940Thr
XM_017010949.2:c.7670T>C XP_016866438.1:p.Ile2557Thr
XM_017010950.1:c.9530T>C XP_016866439.1:p.Ile3177Thr
XR_001743469.1:n.9806T>C
NM_138694.4:c.9530T>C MANE Select NP_619639.3:p.Ile3177Thr
NM_170724.3:c.9530T>C NP_733842.2:p.Ile3177Thr