Canonical Allele Identifier: CA2533827

Gene: NECTIN3

Linked Data

• dbSNP Id: rs754553339
• ExAC: 3:110841035 C / T
• gnomAD v2: 3-110841035-C-T
• gnomAD v3: 3-111122188-C-T
• gnomAD v4: 3-111122188-C-T
• MyVariant Identifiers: chr3:g.110841035C>T (hg19) ; chr3:g.111122188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.111122188C>T , CM000665.2:g.111122188C>T	GRCh38
NC_000003.11:g.110841035C>T , CM000665.1:g.110841035C>T	GRCh37
NC_000003.10:g.112323725C>T	NCBI36
NG_029835.1:g.55430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485303.6:c.867C>T MANE Select	ENSP00000418070.1:p.Leu289=
ENST00000319792.7:c.867C>T	ENSP00000321514.3:p.Leu289=
ENST00000485303.5:c.867C>T	ENSP00000418070.1:p.Leu289=
ENST00000486596.5:c.568C>T
ENST00000493615.5:c.798C>T	ENSP00000420579.1:p.Leu266=
NM_001243286.1:c.867C>T	NP_001230215.1:p.Leu289=
NM_001243288.1:c.798C>T	NP_001230217.1:p.Leu266=
NM_015480.2:c.867C>T	NP_056295.1:p.Leu289=
XM_005247322.3:c.867C>T	XP_005247379.2:p.Leu289=
XM_011512662.1:c.960C>T	XP_011510964.1:p.Leu320=
XM_011512663.1:c.960C>T	XP_011510965.1:p.Leu320=
XM_011512664.1:c.798C>T	XP_011510966.1:p.Leu266=
XM_011512665.1:c.960C>T	XP_011510967.1:p.Leu320=
XM_011512666.1:c.960C>T	XP_011510968.1:p.Leu320=
XM_011512667.1:c.231C>T	XP_011510969.1:p.Leu77=
XR_924122.1:n.1190C>T
XM_017006123.1:c.960C>T	XP_016861612.1:p.Leu320=
XM_017006124.1:c.822C>T	XP_016861613.1:p.Leu274=
XM_017006125.1:c.798C>T	XP_016861614.1:p.Leu266=
XM_017006126.1:c.867C>T	XP_016861615.1:p.Leu289=
XM_017006127.2:c.231C>T	XP_016861616.1:p.Leu77=
XR_002959508.1:n.1148C>T
XR_924122.2:n.1190C>T
NM_015480.3:c.867C>T MANE Select	NP_056295.1:p.Leu289=
NM_001243286.2:c.867C>T	NP_001230215.1:p.Leu289=
NM_001243288.2:c.798C>T	NP_001230217.1:p.Leu266=