Canonical Allele Identifier: CA3850719

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 554930
• ClinVar RCV Id: RCV000670650 ; RCV003392511 ; RCV003459618
• dbSNP Id: rs761704401
• ExAC: 6:51491840 G / A
• gnomAD v2: 6-51491840-G-A
• gnomAD v3: 6-51627042-G-A
• gnomAD v4: 6-51627042-G-A
• COSMIC: COSM3411173
• MyVariant Identifiers: chr6:g.51491840G>A (hg19) ; chr6:g.51627042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627042G>A , CM000668.2:g.51627042G>A	GRCh38
NC_000006.11:g.51491840G>A , CM000668.1:g.51491840G>A	GRCh37
NC_000006.10:g.51599799G>A	NCBI36
NG_008753.1:g.465584C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11740C>T MANE Select	ENSP00000360158.3:p.Arg3914Ter
ENST00000371117.7:c.11740C>T	ENSP00000360158.3:p.Arg3914Ter
NM_138694.3:c.11740C>T	NP_619639.3:p.Arg3914Ter
XM_011514679.1:c.11740C>T	XP_011512981.1:p.Arg3914Ter
XM_011514680.1:c.11740C>T	XP_011512982.1:p.Arg3914Ter
XM_011514681.1:c.11611C>T	XP_011512983.1:p.Arg3871Ter
XM_011514682.1:c.11602C>T	XP_011512984.1:p.Arg3868Ter
XM_011514683.1:c.11098C>T	XP_011512985.1:p.Arg3700Ter
XM_011514684.1:c.11029C>T	XP_011512986.1:p.Arg3677Ter
XM_011514690.1:c.5815C>T	XP_011512992.1:p.Arg1939Ter
XM_011514691.1:c.5815C>T	XP_011512993.1:p.Arg1939Ter
XM_011514680.3:c.11740C>T	XP_011512982.1:p.Arg3914Ter
XM_011514682.3:c.11602C>T	XP_011512984.1:p.Arg3868Ter
XM_011514683.3:c.11098C>T	XP_011512985.1:p.Arg3700Ter
XM_011514684.3:c.11029C>T	XP_011512986.1:p.Arg3677Ter
XM_011514690.3:c.5815C>T	XP_011512992.1:p.Arg1939Ter
XM_011514691.3:c.5815C>T	XP_011512993.1:p.Arg1939Ter
XM_017010944.2:c.11740C>T	XP_016866433.1:p.Arg3914Ter
XM_017010945.2:c.11665C>T	XP_016866434.1:p.Arg3889Ter
XM_017010946.2:c.11545C>T	XP_016866435.1:p.Arg3849Ter
XM_017010947.2:c.11476C>T	XP_016866436.1:p.Arg3826Ter
XM_017010948.2:c.11029C>T	XP_016866437.1:p.Arg3677Ter
XM_017010949.2:c.9880C>T	XP_016866438.1:p.Arg3294Ter
NM_138694.4:c.11740C>T MANE Select	NP_619639.3:p.Arg3914Ter