Canonical Allele Identifier: CA450613244

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2905960
• ClinVar RCV Id: RCV003612187
• dbSNP Id: rs1412400979
• gnomAD v4: 6-51659671-T-C
• COSMIC: COSM5666121
• MyVariant Identifiers: chr6:g.51524469T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659671T>C , CM000668.2:g.51659671T>C	GRCh38
NC_000006.11:g.51524469T>C , CM000668.1:g.51524469T>C	GRCh37
NC_000006.10:g.51632428T>C	NCBI36
NG_008753.1:g.432955A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10455A>G MANE Select	ENSP00000360158.3:p.Leu3485=
ENST00000371117.7:c.10455A>G	ENSP00000360158.3:p.Leu3485=
NM_138694.3:c.10455A>G	NP_619639.3:p.Leu3485=
XM_011514679.1:c.10455A>G	XP_011512981.1:p.Leu3485=
XM_011514680.1:c.10455A>G	XP_011512982.1:p.Leu3485=
XM_011514681.1:c.10326A>G	XP_011512983.1:p.Leu3442=
XM_011514682.1:c.10317A>G	XP_011512984.1:p.Leu3439=
XM_011514683.1:c.9813A>G	XP_011512985.1:p.Leu3271=
XM_011514684.1:c.9744A>G	XP_011512986.1:p.Leu3248=
XM_011514687.1:c.10157-10451A>G	XP_011512989.1:n.10157-10451A>G
XM_011514690.1:c.4530A>G	XP_011512992.1:p.Leu1510=
XM_011514691.1:c.4530A>G	XP_011512993.1:p.Leu1510=
XR_926870.1:n.535+7298T>C
XR_926871.1:n.403+7298T>C
XR_926872.1:n.535+7298T>C
XM_011514680.3:c.10455A>G	XP_011512982.1:p.Leu3485=
XM_011514682.3:c.10317A>G	XP_011512984.1:p.Leu3439=
XM_011514683.3:c.9813A>G	XP_011512985.1:p.Leu3271=
XM_011514684.3:c.9744A>G	XP_011512986.1:p.Leu3248=
XM_011514690.3:c.4530A>G	XP_011512992.1:p.Leu1510=
XM_011514691.3:c.4530A>G	XP_011512993.1:p.Leu1510=
XM_017010944.2:c.10455A>G	XP_016866433.1:p.Leu3485=
XM_017010945.2:c.10380A>G	XP_016866434.1:p.Leu3460=
XM_017010946.2:c.10260A>G	XP_016866435.1:p.Leu3420=
XM_017010947.2:c.10191A>G	XP_016866436.1:p.Leu3397=
XM_017010948.2:c.9744A>G	XP_016866437.1:p.Leu3248=
XM_017010949.2:c.8595A>G	XP_016866438.1:p.Leu2865=
XR_001743469.1:n.10731A>G
XR_001744157.1:n.3145+7298T>C
XR_926870.2:n.3145+7298T>C
XR_926871.2:n.3013+7298T>C
XR_926872.2:n.3145+7298T>C
NM_138694.4:c.10455A>G MANE Select	NP_619639.3:p.Leu3485=