Canonical Allele Identifier: CA15816190
Gene: PCNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2810114
gnomAD v2: 14-71395604-C-A
gnomAD v3: 14-70928887-C-A
gnomAD v4: 14-70928887-C-A
MyVariant Identifiers: chr14:g.71395604C>A (hg19) chr14:g.70928887C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.70928887C>A , CM000676.2:g.70928887C>A GRCh38
NC_000014.8:g.71395604C>A , CM000676.1:g.71395604C>A GRCh37
NC_000014.7:g.70465357C>A NCBI36
NG_051070.1:g.26483C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304743.7:c.154-18028C>A MANE Select ENSP00000304192.2:n.154-18028C>A
ENST00000304743.6:c.154-18028C>A ENSP00000304192.2:n.154-18028C>A
ENST00000439984.7:c.154-18028C>A ENSP00000396617.3:n.154-18028C>A
ENST00000554292.1:n.335-13986C>A
ENST00000554879.5:n.600-18028C>A
NM_001308160.1:c.154-18028C>A NP_001295089.1:n.154-18028C>A
NM_014982.2:c.154-18028C>A NP_055797.2:n.154-18028C>A
XM_005267420.3:c.154-18028C>A XP_005267477.1:n.154-18028C>A
XM_005267421.3:c.154-18028C>A XP_005267478.1:n.154-18028C>A
XM_005267422.3:c.154-18028C>A XP_005267479.1:n.154-18028C>A
XM_005267423.3:c.154-18028C>A XP_005267480.1:n.154-18028C>A
XM_005267425.3:c.154-18028C>A XP_005267482.1:n.154-18028C>A
XM_005267427.3:c.154-18028C>A XP_005267484.1:n.154-18028C>A
XR_245672.3:n.529-18028C>A
XR_245673.3:n.529-18028C>A
XR_943402.1:n.529-18028C>A
XM_005267420.4:c.154-18028C>A XP_005267477.1:n.154-18028C>A
XM_005267421.4:c.154-18028C>A XP_005267478.1:n.154-18028C>A
XM_005267422.4:c.154-18028C>A XP_005267479.1:n.154-18028C>A
XM_005267423.4:c.154-18028C>A XP_005267480.1:n.154-18028C>A
XM_005267425.4:c.154-18028C>A XP_005267482.1:n.154-18028C>A
XM_005267427.4:c.154-18028C>A XP_005267484.1:n.154-18028C>A
XM_017021096.1:c.154-18028C>A XP_016876585.1:n.154-18028C>A
XR_245672.4:n.562-18028C>A
XR_245673.4:n.562-18028C>A
NM_001308160.2:c.154-18028C>A NP_001295089.1:n.154-18028C>A
NM_014982.3:c.154-18028C>A MANE Select NP_055797.2:n.154-18028C>A
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