Canonical Allele Identifier: CA138895870

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 572902
• ClinVar RCV Id: RCV000694411
• dbSNP Id: rs146649803
• gnomAD v2: 6-51612695-C-T
• gnomAD v3: 6-51747897-C-T
• gnomAD v4: 6-51747897-C-T
• COSMIC: COSM139649 ; COSM1596432
• MyVariant Identifiers: chr6:g.51612695C>T (hg19) ; chr6:g.51747897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51747897C>T , CM000668.2:g.51747897C>T	GRCh38
NC_000006.11:g.51612695C>T , CM000668.1:g.51612695C>T	GRCh37
NC_000006.10:g.51720654C>T	NCBI36
NG_008753.1:g.344729G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.9719G>A MANE Select	ENSP00000360158.3:p.Arg3240Gln
ENST00000340994.4:c.9719G>A	ENSP00000341097.4:p.Arg3240Gln
ENST00000371117.7:c.9719G>A	ENSP00000360158.3:p.Arg3240Gln
NM_138694.3:c.9719G>A	NP_619639.3:p.Arg3240Gln
NM_170724.2:c.9719G>A	NP_733842.2:p.Arg3240Gln
XM_011514679.1:c.9719G>A	XP_011512981.1:p.Arg3240Gln
XM_011514680.1:c.9719G>A	XP_011512982.1:p.Arg3240Gln
XM_011514681.1:c.9590G>A	XP_011512983.1:p.Arg3197Gln
XM_011514682.1:c.9581G>A	XP_011512984.1:p.Arg3194Gln
XM_011514683.1:c.9077G>A	XP_011512985.1:p.Arg3026Gln
XM_011514684.1:c.9008G>A	XP_011512986.1:p.Arg3003Gln
XM_011514685.1:c.9719G>A	XP_011512987.1:p.Arg3240Gln
XM_011514686.1:c.9719G>A	XP_011512988.1:p.Arg3240Gln
XM_011514687.1:c.9719G>A	XP_011512989.1:p.Arg3240Gln
XM_011514688.1:c.9719G>A	XP_011512990.1:p.Arg3240Gln
XM_011514690.1:c.3794G>A	XP_011512992.1:p.Arg1265Gln
XM_011514691.1:c.3794G>A	XP_011512993.1:p.Arg1265Gln
XM_011514680.3:c.9719G>A	XP_011512982.1:p.Arg3240Gln
XM_011514682.3:c.9581G>A	XP_011512984.1:p.Arg3194Gln
XM_011514683.3:c.9077G>A	XP_011512985.1:p.Arg3026Gln
XM_011514684.3:c.9008G>A	XP_011512986.1:p.Arg3003Gln
XM_011514686.2:c.9719G>A	XP_011512988.1:p.Arg3240Gln
XM_011514688.2:c.9719G>A	XP_011512990.1:p.Arg3240Gln
XM_011514690.3:c.3794G>A	XP_011512992.1:p.Arg1265Gln
XM_011514691.3:c.3794G>A	XP_011512993.1:p.Arg1265Gln
XM_017010944.2:c.9719G>A	XP_016866433.1:p.Arg3240Gln
XM_017010945.2:c.9644G>A	XP_016866434.1:p.Arg3215Gln
XM_017010946.2:c.9524G>A	XP_016866435.1:p.Arg3175Gln
XM_017010947.2:c.9455G>A	XP_016866436.1:p.Arg3152Gln
XM_017010948.2:c.9008G>A	XP_016866437.1:p.Arg3003Gln
XM_017010949.2:c.7859G>A	XP_016866438.1:p.Arg2620Gln
XM_017010950.1:c.9719G>A	XP_016866439.1:p.Arg3240Gln
XR_001743469.1:n.9995G>A
NM_138694.4:c.9719G>A MANE Select	NP_619639.3:p.Arg3240Gln
NM_170724.3:c.9719G>A	NP_733842.2:p.Arg3240Gln