Canonical Allele Identifier: CA149480

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 96372
• ClinVar RCV Id: RCV000082522 ; RCV000376208 ; RCV001291894 ; RCV001530468 ; RCV001705789
• dbSNP Id: rs4715227
• ExAC: 6:51491884 T / C
• gnomAD v2: 6-51491884-T-C
• gnomAD v3: 6-51627086-T-C
• gnomAD v4: 6-51627086-T-C
• MyVariant Identifiers: chr6:g.51491884T>C (hg19) ; chr6:g.51627086T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627086T>C , CM000668.2:g.51627086T>C	GRCh38
NC_000006.11:g.51491884T>C , CM000668.1:g.51491884T>C	GRCh37
NC_000006.10:g.51599843T>C	NCBI36
NG_008753.1:g.465540A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11696A>G MANE Select	ENSP00000360158.3:p.Gln3899Arg
ENST00000371117.7:c.11696A>G	ENSP00000360158.3:p.Gln3899Arg
NM_138694.3:c.11696A>G	NP_619639.3:p.Gln3899Arg
XM_011514679.1:c.11696A>G	XP_011512981.1:p.Gln3899Arg
XM_011514680.1:c.11696A>G	XP_011512982.1:p.Gln3899Arg
XM_011514681.1:c.11567A>G	XP_011512983.1:p.Gln3856Arg
XM_011514682.1:c.11558A>G	XP_011512984.1:p.Gln3853Arg
XM_011514683.1:c.11054A>G	XP_011512985.1:p.Gln3685Arg
XM_011514684.1:c.10985A>G	XP_011512986.1:p.Gln3662Arg
XM_011514690.1:c.5771A>G	XP_011512992.1:p.Gln1924Arg
XM_011514691.1:c.5771A>G	XP_011512993.1:p.Gln1924Arg
XM_011514680.3:c.11696A>G	XP_011512982.1:p.Gln3899Arg
XM_011514682.3:c.11558A>G	XP_011512984.1:p.Gln3853Arg
XM_011514683.3:c.11054A>G	XP_011512985.1:p.Gln3685Arg
XM_011514684.3:c.10985A>G	XP_011512986.1:p.Gln3662Arg
XM_011514690.3:c.5771A>G	XP_011512992.1:p.Gln1924Arg
XM_011514691.3:c.5771A>G	XP_011512993.1:p.Gln1924Arg
XM_017010944.2:c.11696A>G	XP_016866433.1:p.Gln3899Arg
XM_017010945.2:c.11621A>G	XP_016866434.1:p.Gln3874Arg
XM_017010946.2:c.11501A>G	XP_016866435.1:p.Gln3834Arg
XM_017010947.2:c.11432A>G	XP_016866436.1:p.Gln3811Arg
XM_017010948.2:c.10985A>G	XP_016866437.1:p.Gln3662Arg
XM_017010949.2:c.9836A>G	XP_016866438.1:p.Gln3279Arg
NM_138694.4:c.11696A>G MANE Select	NP_619639.3:p.Gln3899Arg