Canonical Allele Identifier: CA3851373

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 458608
• ClinVar RCV Id: RCV000780599 ; RCV000592975 ; RCV001087159 ; RCV002527687 ; RCV003962477
• dbSNP Id: rs145651593
• ExAC: 6:51612861 C / T
• gnomAD v2: 6-51612861-C-T
• gnomAD v3: 6-51748063-C-T
• gnomAD v4: 6-51748063-C-T
• MyVariant Identifiers: chr6:g.51612861C>T (hg19) ; chr6:g.51748063C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748063C>T , CM000668.2:g.51748063C>T	GRCh38
NC_000006.11:g.51612861C>T , CM000668.1:g.51612861C>T	GRCh37
NC_000006.10:g.51720820C>T	NCBI36
NG_008753.1:g.344563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9553G>A MANE Select	ENSP00000360158.3:p.Val3185Ile
ENST00000340994.4:c.9553G>A	ENSP00000341097.4:p.Val3185Ile
ENST00000371117.7:c.9553G>A	ENSP00000360158.3:p.Val3185Ile
NM_138694.3:c.9553G>A	NP_619639.3:p.Val3185Ile
NM_170724.2:c.9553G>A	NP_733842.2:p.Val3185Ile
XM_011514679.1:c.9553G>A	XP_011512981.1:p.Val3185Ile
XM_011514680.1:c.9553G>A	XP_011512982.1:p.Val3185Ile
XM_011514681.1:c.9424G>A	XP_011512983.1:p.Val3142Ile
XM_011514682.1:c.9415G>A	XP_011512984.1:p.Val3139Ile
XM_011514683.1:c.8911G>A	XP_011512985.1:p.Val2971Ile
XM_011514684.1:c.8842G>A	XP_011512986.1:p.Val2948Ile
XM_011514685.1:c.9553G>A	XP_011512987.1:p.Val3185Ile
XM_011514686.1:c.9553G>A	XP_011512988.1:p.Val3185Ile
XM_011514687.1:c.9553G>A	XP_011512989.1:p.Val3185Ile
XM_011514688.1:c.9553G>A	XP_011512990.1:p.Val3185Ile
XM_011514690.1:c.3628G>A	XP_011512992.1:p.Val1210Ile
XM_011514691.1:c.3628G>A	XP_011512993.1:p.Val1210Ile
XM_011514680.3:c.9553G>A	XP_011512982.1:p.Val3185Ile
XM_011514682.3:c.9415G>A	XP_011512984.1:p.Val3139Ile
XM_011514683.3:c.8911G>A	XP_011512985.1:p.Val2971Ile
XM_011514684.3:c.8842G>A	XP_011512986.1:p.Val2948Ile
XM_011514686.2:c.9553G>A	XP_011512988.1:p.Val3185Ile
XM_011514688.2:c.9553G>A	XP_011512990.1:p.Val3185Ile
XM_011514690.3:c.3628G>A	XP_011512992.1:p.Val1210Ile
XM_011514691.3:c.3628G>A	XP_011512993.1:p.Val1210Ile
XM_017010944.2:c.9553G>A	XP_016866433.1:p.Val3185Ile
XM_017010945.2:c.9478G>A	XP_016866434.1:p.Val3160Ile
XM_017010946.2:c.9358G>A	XP_016866435.1:p.Val3120Ile
XM_017010947.2:c.9289G>A	XP_016866436.1:p.Val3097Ile
XM_017010948.2:c.8842G>A	XP_016866437.1:p.Val2948Ile
XM_017010949.2:c.7693G>A	XP_016866438.1:p.Val2565Ile
XM_017010950.1:c.9553G>A	XP_016866439.1:p.Val3185Ile
XR_001743469.1:n.9829G>A
NM_138694.4:c.9553G>A MANE Select	NP_619639.3:p.Val3185Ile
NM_170724.3:c.9553G>A	NP_733842.2:p.Val3185Ile