Canonical Allele Identifier: CA7833257

Gene: PKD1

Linked Data

• ClinVar Variation Id: 803171
• ClinVar RCV Id: RCV000989464 ; RCV001528470
• dbSNP Id: rs40433
• ExAC: 16:2164808 C / T
• gnomAD v2: 16-2164808-C-T
• gnomAD v3: 16-2114807-C-T
• gnomAD v4: 16-2114807-C-T
• MyVariant Identifiers: chr16:g.2164808C>T (hg19) ; chr16:g.2114807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2114807C>T , CM000678.2:g.2114807C>T	GRCh38
NC_000016.9:g.2164808C>T , CM000678.1:g.2164808C>T	GRCh37
NC_000016.8:g.2104809C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.2216G>A MANE Select	ENSP00000262304.4:p.Arg739Gln
ENST00000262304.8:c.2216G>A	ENSP00000262304.4:p.Arg739Gln
ENST00000423118.5:c.2216G>A	ENSP00000399501.1:p.Arg739Gln
ENST00000488185.2:c.472+2682G>A
ENST00000568591.5:c.1147G>A	ENSP00000457162.1:n.1147G>A
XM_011522525.1:c.2270G>A	XP_011520827.1:p.Arg757Gln
XM_011522526.1:c.2270G>A	XP_011520828.1:p.Arg757Gln
XM_011522527.1:c.2270G>A	XP_011520829.1:p.Arg757Gln
XM_011522528.1:c.2270G>A	XP_011520830.1:p.Arg757Gln
XM_011522529.1:c.2270G>A	XP_011520831.1:p.Arg757Gln
XM_011522530.1:c.2216G>A	XP_011520832.1:p.Arg739Gln
XM_011522531.1:c.2198G>A	XP_011520833.1:p.Arg733Gln
XM_011522532.1:c.2144G>A	XP_011520834.1:p.Arg715Gln
XM_011522533.1:c.2063G>A	XP_011520835.1:p.Arg688Gln
XM_011522534.1:c.2006G>A	XP_011520836.1:p.Arg669Gln
XM_011522535.1:c.92G>A	XP_011520837.1:p.Arg31Gln
XM_011522536.1:c.2270G>A	XP_011520838.1:p.Arg757Gln
XR_932867.1:n.2285G>A
XR_932868.1:n.2285G>A
XR_932869.1:n.2285G>A
XR_932870.1:n.2285G>A
XM_005255370.3:c.-834G>A	XP_005255427.1:n.-834G>A
XM_011522528.3:c.2270G>A	XP_011520830.1:p.Arg757Gln
XM_011522529.2:c.2270G>A	XP_011520831.1:p.Arg757Gln
XM_024450298.1:c.2216G>A	XP_024306066.1:p.Arg739Gln
XM_024450299.1:c.2144G>A	XP_024306067.1:p.Arg715Gln
XM_024450300.1:c.2006G>A	XP_024306068.1:p.Arg669Gln
XM_024450301.1:c.92G>A	XP_024306069.1:p.Arg31Gln
NM_000296.4:c.2216G>A	NP_000287.4:p.Arg739Gln
NM_001009944.3:c.2216G>A MANE Select	NP_001009944.3:p.Arg739Gln