Canonical Allele Identifier: CA2320346

Gene: SCN10A

Linked Data

• dbSNP Id: rs762335489
• ExAC: 3:38766770 G / A
• gnomAD v2: 3-38766770-G-A
• gnomAD v4: 3-38725279-G-A
• MyVariant Identifiers: chr3:g.38766770G>A (hg19) ; chr3:g.38725279G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725279G>A , CM000665.2:g.38725279G>A	GRCh38
NC_000003.11:g.38766770G>A , CM000665.1:g.38766770G>A	GRCh37
NC_000003.10:g.38741774G>A	NCBI36
NG_031891.2:g.73732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3123C>T MANE Select	ENSP00000390600.2:p.Asp1041=
ENST00000643924.1:c.3120C>T	ENSP00000495595.1:p.Asp1040=
ENST00000655275.1:c.3147C>T	ENSP00000499510.1:p.Asp1049=
ENST00000449082.2:c.3123C>T	ENSP00000390600.2:p.Asp1041=
NM_001293306.2:c.3120C>T	NP_001280235.2:p.Asp1040=
NM_001293307.2:c.2829C>T	NP_001280236.2:p.Asp943=
NM_006514.3:c.3123C>T	NP_006505.3:p.Asp1041=
XM_005265371.2:c.3132C>T	XP_005265428.1:p.Asp1044=
XM_011533993.1:c.3129C>T	XP_011532295.1:p.Asp1043=
XM_011533994.1:c.2838C>T	XP_011532296.1:p.Asp946=
XM_005265371.3:c.3132C>T	XP_005265428.1:p.Asp1044=
XM_011533993.2:c.3129C>T	XP_011532295.1:p.Asp1043=
XM_011533994.2:c.2838C>T	XP_011532296.1:p.Asp946=
NM_006514.4:c.3123C>T MANE Select	NP_006505.4:p.Asp1041=