Canonical Allele Identifier: CA173089

Gene: PCNT

Linked Data

• ClinVar Variation Id: 159657
• ClinVar RCV Id: RCV000147199 ; RCV000388228 ; RCV000434179 ; RCV003982903
• dbSNP Id: rs77075366
• ExAC: 21:47847619 G / C
• gnomAD v2: 21-47847619-G-C
• gnomAD v3: 21-46427705-G-C
• gnomAD v4: 21-46427705-G-C
• MyVariant Identifiers: chr21:g.47847619G>C (hg19) ; chr21:g.46427705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46427705G>C , CM000683.2:g.46427705G>C	GRCh38
NC_000021.8:g.47847619G>C , CM000683.1:g.47847619G>C	GRCh37
NC_000021.7:g.46672047G>C	NCBI36
NG_008961.1:g.108584G>C
NG_008961.2:g.108584G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418394.2:c.223G>C
ENST00000695527.1:n.1749G>C
ENST00000695528.1:c.1437G>C	ENSP00000511990.1:p.Gln479His
ENST00000695529.1:n.1437G>C
ENST00000695530.1:c.223G>C
ENST00000695531.1:n.1006G>C
ENST00000695532.1:n.1006G>C
ENST00000695558.1:c.7437G>C	ENSP00000512015.1:p.Gln2479His
ENST00000703224.1:c.*6647G>C	ENSP00000515242.1:n.*6647G>C
ENST00000359568.10:c.7404G>C MANE Select	ENSP00000352572.5:p.Gln2468His
ENST00000359568.9:c.7404G>C	ENSP00000352572.5:p.Gln2468His
ENST00000480896.5:n.7673G>C
NM_001315529.1:c.7050G>C	NP_001302458.1:p.Gln2350His
NM_006031.5:c.7404G>C	NP_006022.3:p.Gln2468His
XM_005261124.3:c.7437G>C	XP_005261181.1:p.Gln2479His
XM_011529593.1:c.7515G>C	XP_011527895.1:p.Gln2505His
XM_011529594.1:c.7485G>C	XP_011527896.1:p.Gln2495His
XM_005261124.5:c.7437G>C	XP_005261181.1:p.Gln2479His
XM_011529594.3:c.7485G>C	XP_011527896.1:p.Gln2495His
XM_017028362.2:c.7404G>C	XP_016883851.1:p.Gln2468His
XM_017028363.1:c.7083G>C	XP_016883852.1:p.Gln2361His
XM_024452082.1:c.6321G>C	XP_024307850.1:p.Gln2107His
XM_024452083.1:c.5217G>C	XP_024307851.1:p.Gln1739His
NM_006031.6:c.7404G>C MANE Select	NP_006022.3:p.Gln2468His
NM_001315529.2:c.7050G>C	NP_001302458.1:p.Gln2350His