Canonical Allele Identifier: CA899007618

Gene: CPNE4

Linked Data

• dbSNP Id: rs1320900
• MyVariant Identifiers: chr3:g.131713566G>A (hg19) ; chr3:g.131994722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.131994722G>A , CM000665.2:g.131994722G>A	GRCh38
NC_000003.11:g.131713566G>A , CM000665.1:g.131713566G>A	GRCh37
NC_000003.10:g.133196256G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000429747.6:c.-2+39845C>T MANE Select	ENSP00000411904.1:n.-2+39845C>T
ENST00000617767.5:c.53+42835C>T	ENSP00000478878.1:n.53+42835C>T
ENST00000429747.5:c.-2+39845C>T	ENSP00000411904.1:n.-2+39845C>T
ENST00000502818.5:c.53+42835C>T	ENSP00000421646.1:n.53+42835C>T
ENST00000505957.1:c.-2+39845C>T	ENSP00000421394.1:n.-2+39845C>T
ENST00000511604.5:c.-2+39845C>T	ENSP00000423811.1:n.-2+39845C>T
ENST00000512055.5:c.-2+39845C>T	ENSP00000421705.1:n.-2+39845C>T
ENST00000512332.5:c.53+42835C>T	ENSP00000424853.1:n.53+42835C>T
ENST00000514999.5:c.-2+22733C>T	ENSP00000427561.1:n.-2+22733C>T
ENST00000617767.4:c.53+42835C>T	ENSP00000478878.1:n.53+42835C>T
NM_001289112.1:c.53+42835C>T	NP_001276041.1:n.53+42835C>T
NM_130808.2:c.-2+39845C>T	NP_570720.1:n.-2+39845C>T
NM_153429.1:c.53+42835C>T	NP_702907.1:n.53+42835C>T
XM_011512403.1:c.53+42835C>T	XP_011510705.1:n.53+42835C>T
XM_011512404.1:c.53+42835C>T	XP_011510706.1:n.53+42835C>T
XM_011512405.1:c.53+42835C>T	XP_011510707.1:n.53+42835C>T
XM_011512406.1:c.-160+42835C>T	XP_011510708.1:n.-160+42835C>T
XM_011512407.1:c.-160+39845C>T	XP_011510709.1:n.-160+39845C>T
XM_011512406.2:c.-160+42835C>T	XP_011510708.1:n.-160+42835C>T
XM_011512407.2:c.-160+39845C>T	XP_011510709.1:n.-160+39845C>T
XM_017005695.2:c.-652+39845C>T	XP_016861184.1:n.-652+39845C>T
XM_024453340.1:c.-160+42835C>T	XP_024309108.1:n.-160+42835C>T
NM_001289112.2:c.53+42835C>T	NP_001276041.1:n.53+42835C>T
NM_001388326.1:c.-160+42835C>T	NP_001375255.1:n.-160+42835C>T
NM_001388327.1:c.-160+39845C>T	NP_001375256.1:n.-160+39845C>T
NM_130808.3:c.-2+39845C>T MANE Select	NP_570720.1:n.-2+39845C>T
NM_153429.2:c.53+42835C>T	NP_702907.1:n.53+42835C>T