Canonical Allele Identifier: CA2533828

Gene: NECTIN3

Linked Data

• ClinVar Variation Id: 252951
• ClinVar RCV Id: RCV000490767
• dbSNP Id: rs79006549
• ExAC: 3:110841054 A / C
• gnomAD v2: 3-110841054-A-C
• gnomAD v3: 3-111122207-A-C
• gnomAD v4: 3-111122207-A-C
• MyVariant Identifiers: chr3:g.110841054A>C (hg19) ; chr3:g.111122207A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.111122207A>C , CM000665.2:g.111122207A>C	GRCh38
NC_000003.11:g.110841054A>C , CM000665.1:g.110841054A>C	GRCh37
NC_000003.10:g.112323744A>C	NCBI36
NG_029835.1:g.55449A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000485303.6:c.886A>C MANE Select	ENSP00000418070.1:p.Asn296His
ENST00000319792.7:c.886A>C	ENSP00000321514.3:p.Asn296His
ENST00000485303.5:c.886A>C	ENSP00000418070.1:p.Asn296His
ENST00000486596.5:c.587A>C
ENST00000493615.5:c.817A>C	ENSP00000420579.1:p.Asn273His
NM_001243286.1:c.886A>C	NP_001230215.1:p.Asn296His
NM_001243288.1:c.817A>C	NP_001230217.1:p.Asn273His
NM_015480.2:c.886A>C	NP_056295.1:p.Asn296His
XM_005247322.3:c.886A>C	XP_005247379.2:p.Asn296His
XM_011512662.1:c.979A>C	XP_011510964.1:p.Asn327His
XM_011512663.1:c.979A>C	XP_011510965.1:p.Asn327His
XM_011512664.1:c.817A>C	XP_011510966.1:p.Asn273His
XM_011512665.1:c.979A>C	XP_011510967.1:p.Asn327His
XM_011512666.1:c.979A>C	XP_011510968.1:p.Asn327His
XM_011512667.1:c.250A>C	XP_011510969.1:p.Asn84His
XR_924122.1:n.1209A>C
XM_017006123.1:c.979A>C	XP_016861612.1:p.Asn327His
XM_017006124.1:c.841A>C	XP_016861613.1:p.Asn281His
XM_017006125.1:c.817A>C	XP_016861614.1:p.Asn273His
XM_017006126.1:c.886A>C	XP_016861615.1:p.Asn296His
XM_017006127.2:c.250A>C	XP_016861616.1:p.Asn84His
XR_002959508.1:n.1167A>C
XR_924122.2:n.1209A>C
NM_015480.3:c.886A>C MANE Select	NP_056295.1:p.Asn296His
NM_001243286.2:c.886A>C	NP_001230215.1:p.Asn296His
NM_001243288.2:c.817A>C	NP_001230217.1:p.Asn273His