Canonical Allele Identifier: CA3851400

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2164978
• ClinVar RCV Id: RCV003088309
• dbSNP Id: rs779827172
• ExAC: 6:51613046 G / A
• gnomAD v2: 6-51613046-G-A
• gnomAD v4: 6-51748248-G-A
• COSMIC: COSM95006
• MyVariant Identifiers: chr6:g.51613046G>A (hg19) ; chr6:g.51748248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748248G>A , CM000668.2:g.51748248G>A	GRCh38
NC_000006.11:g.51613046G>A , CM000668.1:g.51613046G>A	GRCh37
NC_000006.10:g.51721005G>A	NCBI36
NG_008753.1:g.344378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9368C>T MANE Select	ENSP00000360158.3:p.Ala3123Val
ENST00000340994.4:c.9368C>T	ENSP00000341097.4:p.Ala3123Val
ENST00000371117.7:c.9368C>T	ENSP00000360158.3:p.Ala3123Val
NM_138694.3:c.9368C>T	NP_619639.3:p.Ala3123Val
NM_170724.2:c.9368C>T	NP_733842.2:p.Ala3123Val
XM_011514679.1:c.9368C>T	XP_011512981.1:p.Ala3123Val
XM_011514680.1:c.9368C>T	XP_011512982.1:p.Ala3123Val
XM_011514681.1:c.9239C>T	XP_011512983.1:p.Ala3080Val
XM_011514682.1:c.9230C>T	XP_011512984.1:p.Ala3077Val
XM_011514683.1:c.8726C>T	XP_011512985.1:p.Ala2909Val
XM_011514684.1:c.8657C>T	XP_011512986.1:p.Ala2886Val
XM_011514685.1:c.9368C>T	XP_011512987.1:p.Ala3123Val
XM_011514686.1:c.9368C>T	XP_011512988.1:p.Ala3123Val
XM_011514687.1:c.9368C>T	XP_011512989.1:p.Ala3123Val
XM_011514688.1:c.9368C>T	XP_011512990.1:p.Ala3123Val
XM_011514690.1:c.3443C>T	XP_011512992.1:p.Ala1148Val
XM_011514691.1:c.3443C>T	XP_011512993.1:p.Ala1148Val
XM_011514680.3:c.9368C>T	XP_011512982.1:p.Ala3123Val
XM_011514682.3:c.9230C>T	XP_011512984.1:p.Ala3077Val
XM_011514683.3:c.8726C>T	XP_011512985.1:p.Ala2909Val
XM_011514684.3:c.8657C>T	XP_011512986.1:p.Ala2886Val
XM_011514686.2:c.9368C>T	XP_011512988.1:p.Ala3123Val
XM_011514688.2:c.9368C>T	XP_011512990.1:p.Ala3123Val
XM_011514690.3:c.3443C>T	XP_011512992.1:p.Ala1148Val
XM_011514691.3:c.3443C>T	XP_011512993.1:p.Ala1148Val
XM_017010944.2:c.9368C>T	XP_016866433.1:p.Ala3123Val
XM_017010945.2:c.9293C>T	XP_016866434.1:p.Ala3098Val
XM_017010946.2:c.9173C>T	XP_016866435.1:p.Ala3058Val
XM_017010947.2:c.9104C>T	XP_016866436.1:p.Ala3035Val
XM_017010948.2:c.8657C>T	XP_016866437.1:p.Ala2886Val
XM_017010949.2:c.7508C>T	XP_016866438.1:p.Ala2503Val
XM_017010950.1:c.9368C>T	XP_016866439.1:p.Ala3123Val
XR_001743469.1:n.9644C>T
NM_138694.4:c.9368C>T MANE Select	NP_619639.3:p.Ala3123Val
NM_170724.3:c.9368C>T	NP_733842.2:p.Ala3123Val