Canonical Allele Identifier: CA493044482

Gene: PKD1

Linked Data

• dbSNP Id: rs776632040
• gnomAD v2: 16-2140448-C-G
• gnomAD v4: 16-2090447-C-G
• MyVariant Identifiers: chr16:g.2140448C>G (hg19) ; chr16:g.2090447C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090447C>G , CM000678.2:g.2090447C>G	GRCh38
NC_000016.9:g.2140448C>G , CM000678.1:g.2140448C>G	GRCh37
NC_000016.8:g.2080449C>G	NCBI36
NG_005895.1:g.46142C>G , LRG_487:g.46142C>G
NG_008617.1:g.52774G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.12282G>C MANE Select	ENSP00000262304.4:p.Arg4094=
ENST00000262304.8:c.12282G>C	ENSP00000262304.4:p.Arg4094=
ENST00000423118.5:c.12279G>C	ENSP00000399501.1:p.Arg4093=
ENST00000472577.1:n.310G>C
NM_000296.3:c.12279G>C	NP_000287.3:p.Arg4093=
NM_001009944.2:c.12282G>C	NP_001009944.2:p.Arg4094=
XM_005255370.2:c.9237G>C	XP_005255427.1:p.Arg3079=
XM_011522525.1:c.12360G>C	XP_011520827.1:p.Arg4120=
XM_011522526.1:c.12357G>C	XP_011520828.1:p.Arg4119=
XM_011522527.1:c.12342G>C	XP_011520829.1:p.Arg4114=
XM_011522528.1:c.12336G>C	XP_011520830.1:p.Arg4112=
XM_011522529.1:c.12333G>C	XP_011520831.1:p.Arg4111=
XM_011522530.1:c.12306G>C	XP_011520832.1:p.Arg4102=
XM_011522531.1:c.12288G>C	XP_011520833.1:p.Arg4096=
XM_011522532.1:c.12234G>C	XP_011520834.1:p.Arg4078=
XM_011522533.1:c.12153G>C	XP_011520835.1:p.Arg4051=
XM_011522534.1:c.12096G>C	XP_011520836.1:p.Arg4032=
XM_011522535.1:c.10182G>C	XP_011520837.1:p.Arg3394=
XM_011522537.1:c.9360G>C	XP_011520839.1:p.Arg3120=
XR_932867.1:n.12200G>C
XM_005255370.3:c.9237G>C	XP_005255427.1:p.Arg3079=
XM_011522528.3:c.12336G>C	XP_011520830.1:p.Arg4112=
XM_011522529.2:c.12333G>C	XP_011520831.1:p.Arg4111=
XM_011522537.2:c.9360G>C	XP_011520839.1:p.Arg3120=
XM_024450298.1:c.12402G>C	XP_024306066.1:p.Arg4134=
XM_024450299.1:c.12330G>C	XP_024306067.1:p.Arg4110=
XM_024450300.1:c.12192G>C	XP_024306068.1:p.Arg4064=
XM_024450301.1:c.10278G>C	XP_024306069.1:p.Arg3426=
NM_000296.4:c.12279G>C	NP_000287.4:p.Arg4093=
NM_001009944.3:c.12282G>C MANE Select	NP_001009944.3:p.Arg4094=