Canonical Allele Identifier: CA3851635

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 288152
• ClinVar RCV Id: RCV000321489 ; RCV001087959
• dbSNP Id: rs376658460
• ExAC: 6:51656024 C / G
• gnomAD v2: 6-51656024-C-G
• gnomAD v3: 6-51791226-C-G
• gnomAD v4: 6-51791226-C-G
• MyVariant Identifiers: chr6:g.51656024C>G (hg19) ; chr6:g.51791226C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51791226C>G , CM000668.2:g.51791226C>G	GRCh38
NC_000006.11:g.51656024C>G , CM000668.1:g.51656024C>G	GRCh37
NC_000006.10:g.51763983C>G	NCBI36
NG_008753.1:g.301400G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.8440+10G>C MANE Select	ENSP00000360158.3:n.8440+10G>C
ENST00000340994.4:c.8440+10G>C	ENSP00000341097.4:n.8440+10G>C
ENST00000371117.7:c.8440+10G>C	ENSP00000360158.3:n.8440+10G>C
NM_138694.3:c.8440+10G>C	NP_619639.3:n.8440+10G>C
NM_170724.2:c.8440+10G>C	NP_733842.2:n.8440+10G>C
XM_011514679.1:c.8440+10G>C	XP_011512981.1:n.8440+10G>C
XM_011514680.1:c.8440+10G>C	XP_011512982.1:n.8440+10G>C
XM_011514681.1:c.8311+10G>C	XP_011512983.1:n.8311+10G>C
XM_011514682.1:c.8303-15305G>C	XP_011512984.1:n.8303-15305G>C
XM_011514683.1:c.7798+10G>C	XP_011512985.1:n.7798+10G>C
XM_011514684.1:c.7729+10G>C	XP_011512986.1:n.7729+10G>C
XM_011514685.1:c.8440+10G>C	XP_011512987.1:n.8440+10G>C
XM_011514686.1:c.8440+10G>C	XP_011512988.1:n.8440+10G>C
XM_011514687.1:c.8440+10G>C	XP_011512989.1:n.8440+10G>C
XM_011514688.1:c.8440+10G>C	XP_011512990.1:n.8440+10G>C
XM_011514690.1:c.2515+10G>C	XP_011512992.1:n.2515+10G>C
XM_011514691.1:c.2515+10G>C	XP_011512993.1:n.2515+10G>C
XM_011514680.3:c.8440+10G>C	XP_011512982.1:n.8440+10G>C
XM_011514682.3:c.8303-15305G>C	XP_011512984.1:n.8303-15305G>C
XM_011514683.3:c.7798+10G>C	XP_011512985.1:n.7798+10G>C
XM_011514684.3:c.7729+10G>C	XP_011512986.1:n.7729+10G>C
XM_011514686.2:c.8440+10G>C	XP_011512988.1:n.8440+10G>C
XM_011514688.2:c.8440+10G>C	XP_011512990.1:n.8440+10G>C
XM_011514690.3:c.2515+10G>C	XP_011512992.1:n.2515+10G>C
XM_011514691.3:c.2515+10G>C	XP_011512993.1:n.2515+10G>C
XM_017010944.2:c.8440+10G>C	XP_016866433.1:n.8440+10G>C
XM_017010945.2:c.8365+10G>C	XP_016866434.1:n.8365+10G>C
XM_017010946.2:c.8245+10G>C	XP_016866435.1:n.8245+10G>C
XM_017010947.2:c.8176+10G>C	XP_016866436.1:n.8176+10G>C
XM_017010948.2:c.7729+10G>C	XP_016866437.1:n.7729+10G>C
XM_017010949.2:c.6580+10G>C	XP_016866438.1:n.6580+10G>C
XM_017010950.1:c.8440+10G>C	XP_016866439.1:n.8440+10G>C
XM_017010951.1:c.8440+10G>C	XP_016866440.1:n.8440+10G>C
XR_001743469.1:n.8716+10G>C
NM_138694.4:c.8440+10G>C MANE Select	NP_619639.3:n.8440+10G>C
NM_170724.3:c.8440+10G>C	NP_733842.2:n.8440+10G>C