Canonical Allele Identifier: CA1047001800

Gene: SCN10A

Linked Data

• dbSNP Id: rs2063441450
• gnomAD v3: 3-38725275-G-GAA
• gnomAD v4: 3-38725275-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725275_38725276insAA , CM000665.2:g.38725275_38725276insAA	GRCh38
NC_000003.11:g.38766766_38766767insAA , CM000665.1:g.38766766_38766767insAA	GRCh37
NC_000003.10:g.38741770_38741771insAA	NCBI36
NG_031891.2:g.73735_73736insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3126_3127insTT MANE Select	ENSP00000390600.2:p.Leu1043PhefsTer2
ENST00000643924.1:c.3123_3124insTT	ENSP00000495595.1:p.Leu1042PhefsTer2
ENST00000655275.1:c.3150_3151insTT	ENSP00000499510.1:p.Leu1051PhefsTer2
ENST00000449082.2:c.3126_3127insTT	ENSP00000390600.2:p.Leu1043PhefsTer2
NM_001293306.2:c.3123_3124insTT	NP_001280235.2:p.Leu1042PhefsTer2
NM_001293307.2:c.2832_2833insTT	NP_001280236.2:p.Leu945PhefsTer2
NM_006514.3:c.3126_3127insTT	NP_006505.3:p.Leu1043PhefsTer2
XM_005265371.2:c.3135_3136insTT	XP_005265428.1:p.Leu1046PhefsTer2
XM_011533993.1:c.3132_3133insTT	XP_011532295.1:p.Leu1045PhefsTer2
XM_011533994.1:c.2841_2842insTT	XP_011532296.1:p.Leu948PhefsTer2
XM_005265371.3:c.3135_3136insTT	XP_005265428.1:p.Leu1046PhefsTer2
XM_011533993.2:c.3132_3133insTT	XP_011532295.1:p.Leu1045PhefsTer2
XM_011533994.2:c.2841_2842insTT	XP_011532296.1:p.Leu948PhefsTer2
NM_006514.4:c.3126_3127insTT MANE Select	NP_006505.4:p.Leu1043PhefsTer2