Canonical Allele Identifier: CA3851508

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 908046
• ClinVar RCV Id: RCV001158305
• dbSNP Id: rs773010322
• ExAC: 6:51618119 T / C
• gnomAD v2: 6-51618119-T-C
• gnomAD v3: 6-51753321-T-C
• gnomAD v4: 6-51753321-T-C
• MyVariant Identifiers: chr6:g.51618119T>C (hg19) ; chr6:g.51753321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753321T>C , CM000668.2:g.51753321T>C	GRCh38
NC_000006.11:g.51618119T>C , CM000668.1:g.51618119T>C	GRCh37
NC_000006.10:g.51726078T>C	NCBI36
NG_008753.1:g.339305A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.8830A>G MANE Select	ENSP00000360158.3:p.Ile2944Val
ENST00000340994.4:c.8830A>G	ENSP00000341097.4:p.Ile2944Val
ENST00000371117.7:c.8830A>G	ENSP00000360158.3:p.Ile2944Val
NM_138694.3:c.8830A>G	NP_619639.3:p.Ile2944Val
NM_170724.2:c.8830A>G	NP_733842.2:p.Ile2944Val
XM_011514679.1:c.8830A>G	XP_011512981.1:p.Ile2944Val
XM_011514680.1:c.8830A>G	XP_011512982.1:p.Ile2944Val
XM_011514681.1:c.8701A>G	XP_011512983.1:p.Ile2901Val
XM_011514682.1:c.8692A>G	XP_011512984.1:p.Ile2898Val
XM_011514683.1:c.8188A>G	XP_011512985.1:p.Ile2730Val
XM_011514684.1:c.8119A>G	XP_011512986.1:p.Ile2707Val
XM_011514685.1:c.8830A>G	XP_011512987.1:p.Ile2944Val
XM_011514686.1:c.8830A>G	XP_011512988.1:p.Ile2944Val
XM_011514687.1:c.8830A>G	XP_011512989.1:p.Ile2944Val
XM_011514688.1:c.8830A>G	XP_011512990.1:p.Ile2944Val
XM_011514690.1:c.2905A>G	XP_011512992.1:p.Ile969Val
XM_011514691.1:c.2905A>G	XP_011512993.1:p.Ile969Val
XM_011514680.3:c.8830A>G	XP_011512982.1:p.Ile2944Val
XM_011514682.3:c.8692A>G	XP_011512984.1:p.Ile2898Val
XM_011514683.3:c.8188A>G	XP_011512985.1:p.Ile2730Val
XM_011514684.3:c.8119A>G	XP_011512986.1:p.Ile2707Val
XM_011514686.2:c.8830A>G	XP_011512988.1:p.Ile2944Val
XM_011514688.2:c.8830A>G	XP_011512990.1:p.Ile2944Val
XM_011514690.3:c.2905A>G	XP_011512992.1:p.Ile969Val
XM_011514691.3:c.2905A>G	XP_011512993.1:p.Ile969Val
XM_017010944.2:c.8830A>G	XP_016866433.1:p.Ile2944Val
XM_017010945.2:c.8755A>G	XP_016866434.1:p.Ile2919Val
XM_017010946.2:c.8635A>G	XP_016866435.1:p.Ile2879Val
XM_017010947.2:c.8566A>G	XP_016866436.1:p.Ile2856Val
XM_017010948.2:c.8119A>G	XP_016866437.1:p.Ile2707Val
XM_017010949.2:c.6970A>G	XP_016866438.1:p.Ile2324Val
XM_017010950.1:c.8830A>G	XP_016866439.1:p.Ile2944Val
XM_017010951.1:c.*1434A>G	XP_016866440.1:n.*1434A>G
XR_001743469.1:n.9106A>G
NM_138694.4:c.8830A>G MANE Select	NP_619639.3:p.Ile2944Val
NM_170724.3:c.8830A>G	NP_733842.2:p.Ile2944Val