Canonical Allele Identifier: CA3851801

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 458606
• ClinVar RCV Id: RCV000538644 ; RCV003962476
• dbSNP Id: rs199953233
• ExAC: 6:51720686 G / T
• gnomAD v2: 6-51720686-G-T
• gnomAD v3: 6-51855888-G-T
• gnomAD v4: 6-51855888-G-T
• MyVariant Identifiers: chr6:g.51720686G>T (hg19) ; chr6:g.51855888G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51855888G>T , CM000668.2:g.51855888G>T	GRCh38
NC_000006.11:g.51720686G>T , CM000668.1:g.51720686G>T	GRCh37
NC_000006.10:g.51828645G>T	NCBI36
NG_008753.1:g.236738C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.7911+5C>A MANE Select	ENSP00000360158.3:n.7911+5C>A
ENST00000340994.4:c.7911+5C>A	ENSP00000341097.4:n.7911+5C>A
ENST00000371117.7:c.7911+5C>A	ENSP00000360158.3:n.7911+5C>A
NM_138694.3:c.7911+5C>A	NP_619639.3:n.7911+5C>A
NM_170724.2:c.7911+5C>A	NP_733842.2:n.7911+5C>A
XM_011514679.1:c.7911+5C>A	XP_011512981.1:n.7911+5C>A
XM_011514680.1:c.7911+5C>A	XP_011512982.1:n.7911+5C>A
XM_011514681.1:c.7911+5C>A	XP_011512983.1:n.7911+5C>A
XM_011514682.1:c.7911+5C>A	XP_011512984.1:n.7911+5C>A
XM_011514683.1:c.7269+5C>A	XP_011512985.1:n.7269+5C>A
XM_011514684.1:c.7200+5C>A	XP_011512986.1:n.7200+5C>A
XM_011514685.1:c.7911+5C>A	XP_011512987.1:n.7911+5C>A
XM_011514686.1:c.7911+5C>A	XP_011512988.1:n.7911+5C>A
XM_011514687.1:c.7911+5C>A	XP_011512989.1:n.7911+5C>A
XM_011514688.1:c.7911+5C>A	XP_011512990.1:n.7911+5C>A
XM_011514689.1:c.7911+5C>A	XP_011512991.1:n.7911+5C>A
XM_011514690.1:c.1986+5C>A	XP_011512992.1:n.1986+5C>A
XM_011514691.1:c.1986+5C>A	XP_011512993.1:n.1986+5C>A
XM_011514680.3:c.7911+5C>A	XP_011512982.1:n.7911+5C>A
XM_011514682.3:c.7911+5C>A	XP_011512984.1:n.7911+5C>A
XM_011514683.3:c.7269+5C>A	XP_011512985.1:n.7269+5C>A
XM_011514684.3:c.7200+5C>A	XP_011512986.1:n.7200+5C>A
XM_011514686.2:c.7911+5C>A	XP_011512988.1:n.7911+5C>A
XM_011514688.2:c.7911+5C>A	XP_011512990.1:n.7911+5C>A
XM_011514690.3:c.1986+5C>A	XP_011512992.1:n.1986+5C>A
XM_011514691.3:c.1986+5C>A	XP_011512993.1:n.1986+5C>A
XM_017010944.2:c.7911+5C>A	XP_016866433.1:n.7911+5C>A
XM_017010945.2:c.7836+5C>A	XP_016866434.1:n.7836+5C>A
XM_017010946.2:c.7911+5C>A	XP_016866435.1:n.7911+5C>A
XM_017010947.2:c.7647+5C>A	XP_016866436.1:n.7647+5C>A
XM_017010948.2:c.7200+5C>A	XP_016866437.1:n.7200+5C>A
XM_017010949.2:c.6051+5C>A	XP_016866438.1:n.6051+5C>A
XM_017010950.1:c.7911+5C>A	XP_016866439.1:n.7911+5C>A
XM_017010951.1:c.7911+5C>A	XP_016866440.1:n.7911+5C>A
XM_017010952.1:c.7911+5C>A	XP_016866441.1:n.7911+5C>A
XR_001743469.1:n.8187+5C>A
NM_138694.4:c.7911+5C>A MANE Select	NP_619639.3:n.7911+5C>A
NM_170724.3:c.7911+5C>A	NP_733842.2:n.7911+5C>A