Canonical Allele Identifier: CA348314
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 220094
dbSNP Id: rs35445653
gnomAD v2: 6-51612837-C-T
gnomAD v3: 6-51748039-C-T
gnomAD v4: 6-51748039-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51748039C>T , CM000668.2:g.51748039C>T GRCh38
NC_000006.11:g.51612837C>T , CM000668.1:g.51612837C>T GRCh37
NC_000006.10:g.51720796C>T NCBI36
NG_008753.1:g.344587G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.9577G>A MANE Select ENSP00000360158.3:p.Val3193Ile
ENST00000340994.4:c.9577G>A ENSP00000341097.4:p.Val3193Ile
ENST00000371117.7:c.9577G>A ENSP00000360158.3:p.Val3193Ile
NM_138694.3:c.9577G>A NP_619639.3:p.Val3193Ile
NM_170724.2:c.9577G>A NP_733842.2:p.Val3193Ile
XM_011514679.1:c.9577G>A XP_011512981.1:p.Val3193Ile
XM_011514680.1:c.9577G>A XP_011512982.1:p.Val3193Ile
XM_011514681.1:c.9448G>A XP_011512983.1:p.Val3150Ile
XM_011514682.1:c.9439G>A XP_011512984.1:p.Val3147Ile
XM_011514683.1:c.8935G>A XP_011512985.1:p.Val2979Ile
XM_011514684.1:c.8866G>A XP_011512986.1:p.Val2956Ile
XM_011514685.1:c.9577G>A XP_011512987.1:p.Val3193Ile
XM_011514686.1:c.9577G>A XP_011512988.1:p.Val3193Ile
XM_011514687.1:c.9577G>A XP_011512989.1:p.Val3193Ile
XM_011514688.1:c.9577G>A XP_011512990.1:p.Val3193Ile
XM_011514690.1:c.3652G>A XP_011512992.1:p.Val1218Ile
XM_011514691.1:c.3652G>A XP_011512993.1:p.Val1218Ile
XM_011514680.3:c.9577G>A XP_011512982.1:p.Val3193Ile
XM_011514682.3:c.9439G>A XP_011512984.1:p.Val3147Ile
XM_011514683.3:c.8935G>A XP_011512985.1:p.Val2979Ile
XM_011514684.3:c.8866G>A XP_011512986.1:p.Val2956Ile
XM_011514686.2:c.9577G>A XP_011512988.1:p.Val3193Ile
XM_011514688.2:c.9577G>A XP_011512990.1:p.Val3193Ile
XM_011514690.3:c.3652G>A XP_011512992.1:p.Val1218Ile
XM_011514691.3:c.3652G>A XP_011512993.1:p.Val1218Ile
XM_017010944.2:c.9577G>A XP_016866433.1:p.Val3193Ile
XM_017010945.2:c.9502G>A XP_016866434.1:p.Val3168Ile
XM_017010946.2:c.9382G>A XP_016866435.1:p.Val3128Ile
XM_017010947.2:c.9313G>A XP_016866436.1:p.Val3105Ile
XM_017010948.2:c.8866G>A XP_016866437.1:p.Val2956Ile
XM_017010949.2:c.7717G>A XP_016866438.1:p.Val2573Ile
XM_017010950.1:c.9577G>A XP_016866439.1:p.Val3193Ile
XR_001743469.1:n.9853G>A
NM_138694.4:c.9577G>A MANE Select NP_619639.3:p.Val3193Ile
NM_170724.3:c.9577G>A NP_733842.2:p.Val3193Ile