Canonical Allele Identifier: CA946733558

Gene: CPNE8

Linked Data

• dbSNP Id: rs1353467252
• gnomAD v3: 12-38859447-G-A
• gnomAD v4: 12-38859447-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.38859447G>A , CM000674.2:g.38859447G>A	GRCh38
NC_000012.11:g.39253249G>A , CM000674.1:g.39253249G>A	GRCh37
NC_000012.10:g.37539516G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331366.10:c.187-10785C>T MANE Select	ENSP00000329748.5:n.187-10785C>T
ENST00000331366.9:c.187-10785C>T	ENSP00000329748.5:n.187-10785C>T
ENST00000360449.3:c.151-10785C>T	ENSP00000353633.3:n.151-10785C>T
ENST00000550863.1:c.-297-10785C>T	ENSP00000447761.1:n.-297-10785C>T
NM_153634.2:c.187-10785C>T	NP_705898.1:n.187-10785C>T
XM_011537951.1:c.187-10785C>T	XP_011536253.1:n.187-10785C>T
XM_011537952.1:c.187-10785C>T	XP_011536254.1:n.187-10785C>T
XR_245896.2:n.788-10785C>T
XR_944501.1:n.788-10785C>T
XM_011537951.3:c.187-10785C>T	XP_011536253.1:n.187-10785C>T
XM_011537952.3:c.187-10785C>T	XP_011536254.1:n.187-10785C>T
XM_017018852.1:c.-297-10785C>T	XP_016874341.1:n.-297-10785C>T
XR_245896.4:n.244-10785C>T
XR_944501.3:n.244-10785C>T
NM_153634.3:c.187-10785C>T MANE Select	NP_705898.1:n.187-10785C>T