Canonical Allele Identifier: CA7832700

Gene: PKD1

Linked Data

• ClinVar Variation Id: 2541594
• ClinVar RCV Id: RCV003256691
• dbSNP Id: rs771645362
• ExAC: 16:2161548 C / T
• gnomAD v2: 16-2161548-C-T
• gnomAD v3: 16-2111547-C-T
• gnomAD v4: 16-2111547-C-T
• MyVariant Identifiers: chr16:g.2161548C>T (hg19) ; chr16:g.2111547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2111547C>T , CM000678.2:g.2111547C>T	GRCh38
NC_000016.9:g.2161548C>T , CM000678.1:g.2161548C>T	GRCh37
NC_000016.8:g.2101549C>T	NCBI36
NG_008617.1:g.29352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.3620G>A MANE Select	ENSP00000262304.4:p.Arg1207His
ENST00000262304.8:c.3620G>A	ENSP00000262304.4:p.Arg1207His
ENST00000415938.7:n.310+793G>A
ENST00000423118.5:c.3620G>A	ENSP00000399501.1:p.Arg1207His
ENST00000468674.5:n.430+793G>A
ENST00000469241.2:n.570G>A
ENST00000483024.1:c.233+269G>A
ENST00000483731.5:n.790+793G>A
ENST00000488185.2:c.473-3189G>A
ENST00000565639.6:n.773+793G>A
ENST00000568591.5:c.2226+793G>A	ENSP00000457162.1:n.2226+793G>A
ENST00000569983.5:n.421+793G>A
NM_000296.3:c.3620G>A	NP_000287.3:p.Arg1207His
NM_001009944.2:c.3620G>A	NP_001009944.2:p.Arg1207His
XM_005255370.2:c.575G>A	XP_005255427.1:p.Arg192His
XM_011522525.1:c.3698G>A	XP_011520827.1:p.Arg1233His
XM_011522526.1:c.3698G>A	XP_011520828.1:p.Arg1233His
XM_011522527.1:c.3698G>A	XP_011520829.1:p.Arg1233His
XM_011522528.1:c.3674G>A	XP_011520830.1:p.Arg1225His
XM_011522529.1:c.3674G>A	XP_011520831.1:p.Arg1225His
XM_011522530.1:c.3644G>A	XP_011520832.1:p.Arg1215His
XM_011522531.1:c.3626G>A	XP_011520833.1:p.Arg1209His
XM_011522532.1:c.3572G>A	XP_011520834.1:p.Arg1191His
XM_011522533.1:c.3491G>A	XP_011520835.1:p.Arg1164His
XM_011522534.1:c.3434G>A	XP_011520836.1:p.Arg1145His
XM_011522535.1:c.1520G>A	XP_011520837.1:p.Arg507His
XM_011522536.1:c.3698G>A	XP_011520838.1:p.Arg1233His
XM_011522537.1:c.698G>A	XP_011520839.1:p.Arg233His
XR_932867.1:n.3713G>A
XR_932868.1:n.3713G>A
XR_932869.1:n.3713G>A
XR_932870.1:n.3713G>A
XM_005255370.3:c.575G>A	XP_005255427.1:p.Arg192His
XM_011522528.3:c.3674G>A	XP_011520830.1:p.Arg1225His
XM_011522529.2:c.3674G>A	XP_011520831.1:p.Arg1225His
XM_011522537.2:c.698G>A	XP_011520839.1:p.Arg233His
XM_024450298.1:c.3740G>A	XP_024306066.1:p.Arg1247His
XM_024450299.1:c.3668G>A	XP_024306067.1:p.Arg1223His
XM_024450300.1:c.3530G>A	XP_024306068.1:p.Arg1177His
XM_024450301.1:c.1616G>A	XP_024306069.1:p.Arg539His
NM_000296.4:c.3620G>A	NP_000287.4:p.Arg1207His
NM_001009944.3:c.3620G>A MANE Select	NP_001009944.3:p.Arg1207His