Canonical Allele Identifier: CA202674

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 197049
• ClinVar RCV Id: RCV000177959 ; RCV000354123 ; RCV000857781
• dbSNP Id: rs147487242
• ExAC: 6:51777251 G / A
• gnomAD v2: 6-51777251-G-A
• gnomAD v3: 6-51912453-G-A
• gnomAD v4: 6-51912453-G-A
• MyVariant Identifiers: chr6:g.51777251G>A (hg19) ; chr6:g.51912453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51912453G>A , CM000668.2:g.51912453G>A	GRCh38
NC_000006.11:g.51777251G>A , CM000668.1:g.51777251G>A	GRCh37
NC_000006.10:g.51885210G>A	NCBI36
NG_008753.1:g.180173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.6245C>T MANE Select	ENSP00000360158.3:p.Thr2082Ile
ENST00000340994.4:c.6245C>T	ENSP00000341097.4:p.Thr2082Ile
ENST00000371117.7:c.6245C>T	ENSP00000360158.3:p.Thr2082Ile
NM_138694.3:c.6245C>T	NP_619639.3:p.Thr2082Ile
NM_170724.2:c.6245C>T	NP_733842.2:p.Thr2082Ile
XM_011514679.1:c.6245C>T	XP_011512981.1:p.Thr2082Ile
XM_011514680.1:c.6245C>T	XP_011512982.1:p.Thr2082Ile
XM_011514681.1:c.6245C>T	XP_011512983.1:p.Thr2082Ile
XM_011514682.1:c.6245C>T	XP_011512984.1:p.Thr2082Ile
XM_011514683.1:c.5603C>T	XP_011512985.1:p.Thr1868Ile
XM_011514684.1:c.5534C>T	XP_011512986.1:p.Thr1845Ile
XM_011514685.1:c.6245C>T	XP_011512987.1:p.Thr2082Ile
XM_011514686.1:c.6245C>T	XP_011512988.1:p.Thr2082Ile
XM_011514687.1:c.6245C>T	XP_011512989.1:p.Thr2082Ile
XM_011514688.1:c.6245C>T	XP_011512990.1:p.Thr2082Ile
XM_011514689.1:c.6245C>T	XP_011512991.1:p.Thr2082Ile
XM_011514690.1:c.320C>T	XP_011512992.1:p.Thr107Ile
XM_011514691.1:c.320C>T	XP_011512993.1:p.Thr107Ile
XM_011514680.3:c.6245C>T	XP_011512982.1:p.Thr2082Ile
XM_011514682.3:c.6245C>T	XP_011512984.1:p.Thr2082Ile
XM_011514683.3:c.5603C>T	XP_011512985.1:p.Thr1868Ile
XM_011514684.3:c.5534C>T	XP_011512986.1:p.Thr1845Ile
XM_011514686.2:c.6245C>T	XP_011512988.1:p.Thr2082Ile
XM_011514688.2:c.6245C>T	XP_011512990.1:p.Thr2082Ile
XM_011514690.3:c.320C>T	XP_011512992.1:p.Thr107Ile
XM_011514691.3:c.320C>T	XP_011512993.1:p.Thr107Ile
XM_017010944.2:c.6245C>T	XP_016866433.1:p.Thr2082Ile
XM_017010945.2:c.6170C>T	XP_016866434.1:p.Thr2057Ile
XM_017010946.2:c.6245C>T	XP_016866435.1:p.Thr2082Ile
XM_017010947.2:c.5981C>T	XP_016866436.1:p.Thr1994Ile
XM_017010948.2:c.5534C>T	XP_016866437.1:p.Thr1845Ile
XM_017010949.2:c.4385C>T	XP_016866438.1:p.Thr1462Ile
XM_017010950.1:c.6245C>T	XP_016866439.1:p.Thr2082Ile
XM_017010951.1:c.6245C>T	XP_016866440.1:p.Thr2082Ile
XM_017010952.1:c.6245C>T	XP_016866441.1:p.Thr2082Ile
XR_001743469.1:n.6521C>T
NM_138694.4:c.6245C>T MANE Select	NP_619639.3:p.Thr2082Ile
NM_170724.3:c.6245C>T	NP_733842.2:p.Thr2082Ile