Canonical Allele Identifier: CA3850712

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 969420
• ClinVar RCV Id: RCV001244768 ; RCV002480830
• dbSNP Id: rs775014599
• ExAC: 6:51491824 G / A
• gnomAD v2: 6-51491824-G-A
• gnomAD v3: 6-51627026-G-A
• gnomAD v4: 6-51627026-G-A
• MyVariant Identifiers: chr6:g.51491824G>A (hg19) ; chr6:g.51627026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627026G>A , CM000668.2:g.51627026G>A	GRCh38
NC_000006.11:g.51491824G>A , CM000668.1:g.51491824G>A	GRCh37
NC_000006.10:g.51599783G>A	NCBI36
NG_008753.1:g.465600C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11756C>T MANE Select	ENSP00000360158.3:p.Pro3919Leu
ENST00000371117.7:c.11756C>T	ENSP00000360158.3:p.Pro3919Leu
NM_138694.3:c.11756C>T	NP_619639.3:p.Pro3919Leu
XM_011514679.1:c.11756C>T	XP_011512981.1:p.Pro3919Leu
XM_011514680.1:c.11756C>T	XP_011512982.1:p.Pro3919Leu
XM_011514681.1:c.11627C>T	XP_011512983.1:p.Pro3876Leu
XM_011514682.1:c.11618C>T	XP_011512984.1:p.Pro3873Leu
XM_011514683.1:c.11114C>T	XP_011512985.1:p.Pro3705Leu
XM_011514684.1:c.11045C>T	XP_011512986.1:p.Pro3682Leu
XM_011514690.1:c.5831C>T	XP_011512992.1:p.Pro1944Leu
XM_011514691.1:c.5831C>T	XP_011512993.1:p.Pro1944Leu
XM_011514680.3:c.11756C>T	XP_011512982.1:p.Pro3919Leu
XM_011514682.3:c.11618C>T	XP_011512984.1:p.Pro3873Leu
XM_011514683.3:c.11114C>T	XP_011512985.1:p.Pro3705Leu
XM_011514684.3:c.11045C>T	XP_011512986.1:p.Pro3682Leu
XM_011514690.3:c.5831C>T	XP_011512992.1:p.Pro1944Leu
XM_011514691.3:c.5831C>T	XP_011512993.1:p.Pro1944Leu
XM_017010944.2:c.11756C>T	XP_016866433.1:p.Pro3919Leu
XM_017010945.2:c.11681C>T	XP_016866434.1:p.Pro3894Leu
XM_017010946.2:c.11561C>T	XP_016866435.1:p.Pro3854Leu
XM_017010947.2:c.11492C>T	XP_016866436.1:p.Pro3831Leu
XM_017010948.2:c.11045C>T	XP_016866437.1:p.Pro3682Leu
XM_017010949.2:c.9896C>T	XP_016866438.1:p.Pro3299Leu
NM_138694.4:c.11756C>T MANE Select	NP_619639.3:p.Pro3919Leu