Canonical Allele Identifier: CA3851397

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1067981
• ClinVar RCV Id: RCV001379393
• dbSNP Id: rs373241537
• ExAC: 6:51613043 T / C
• gnomAD v2: 6-51613043-T-C
• gnomAD v3: 6-51748245-T-C
• gnomAD v4: 6-51748245-T-C
• MyVariant Identifiers: chr6:g.51613043T>C (hg19) ; chr6:g.51748245T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748245T>C , CM000668.2:g.51748245T>C	GRCh38
NC_000006.11:g.51613043T>C , CM000668.1:g.51613043T>C	GRCh37
NC_000006.10:g.51721002T>C	NCBI36
NG_008753.1:g.344381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9371A>G MANE Select	ENSP00000360158.3:p.His3124Arg
ENST00000340994.4:c.9371A>G	ENSP00000341097.4:p.His3124Arg
ENST00000371117.7:c.9371A>G	ENSP00000360158.3:p.His3124Arg
NM_138694.3:c.9371A>G	NP_619639.3:p.His3124Arg
NM_170724.2:c.9371A>G	NP_733842.2:p.His3124Arg
XM_011514679.1:c.9371A>G	XP_011512981.1:p.His3124Arg
XM_011514680.1:c.9371A>G	XP_011512982.1:p.His3124Arg
XM_011514681.1:c.9242A>G	XP_011512983.1:p.His3081Arg
XM_011514682.1:c.9233A>G	XP_011512984.1:p.His3078Arg
XM_011514683.1:c.8729A>G	XP_011512985.1:p.His2910Arg
XM_011514684.1:c.8660A>G	XP_011512986.1:p.His2887Arg
XM_011514685.1:c.9371A>G	XP_011512987.1:p.His3124Arg
XM_011514686.1:c.9371A>G	XP_011512988.1:p.His3124Arg
XM_011514687.1:c.9371A>G	XP_011512989.1:p.His3124Arg
XM_011514688.1:c.9371A>G	XP_011512990.1:p.His3124Arg
XM_011514690.1:c.3446A>G	XP_011512992.1:p.His1149Arg
XM_011514691.1:c.3446A>G	XP_011512993.1:p.His1149Arg
XM_011514680.3:c.9371A>G	XP_011512982.1:p.His3124Arg
XM_011514682.3:c.9233A>G	XP_011512984.1:p.His3078Arg
XM_011514683.3:c.8729A>G	XP_011512985.1:p.His2910Arg
XM_011514684.3:c.8660A>G	XP_011512986.1:p.His2887Arg
XM_011514686.2:c.9371A>G	XP_011512988.1:p.His3124Arg
XM_011514688.2:c.9371A>G	XP_011512990.1:p.His3124Arg
XM_011514690.3:c.3446A>G	XP_011512992.1:p.His1149Arg
XM_011514691.3:c.3446A>G	XP_011512993.1:p.His1149Arg
XM_017010944.2:c.9371A>G	XP_016866433.1:p.His3124Arg
XM_017010945.2:c.9296A>G	XP_016866434.1:p.His3099Arg
XM_017010946.2:c.9176A>G	XP_016866435.1:p.His3059Arg
XM_017010947.2:c.9107A>G	XP_016866436.1:p.His3036Arg
XM_017010948.2:c.8660A>G	XP_016866437.1:p.His2887Arg
XM_017010949.2:c.7511A>G	XP_016866438.1:p.His2504Arg
XM_017010950.1:c.9371A>G	XP_016866439.1:p.His3124Arg
XR_001743469.1:n.9647A>G
NM_138694.4:c.9371A>G MANE Select	NP_619639.3:p.His3124Arg
NM_170724.3:c.9371A>G	NP_733842.2:p.His3124Arg