Canonical Allele Identifier: CA1047002009

Gene: SCN10A

Linked Data

• gnomAD v3: 3-38725876-A-ACACAAGTGACGACTGCAGGGAAGAAGGCTATGGGAGAGCTACAGACTCAAAGCACAGCTTTTCTGGAC
• gnomAD v4: 3-38725876-A-ACACAAGTGACGACTGCAGGGAAGAAGGCTATGGGAGAGCTACAGACTCAAAGCACAGCTTTTCTGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725880_38725947dup , CM000665.2:g.38725880_38725947dup	GRCh38
NC_000003.11:g.38767371_38767438dup , CM000665.1:g.38767371_38767438dup	GRCh37
NC_000003.10:g.38742375_38742442dup	NCBI36
NG_031891.2:g.73067_73134dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3088-630_3088-563dup MANE Select	ENSP00000390600.2:n.3088-630_3088-563dup
ENST00000643924.1:c.3088-633_3088-566dup	ENSP00000495595.1:n.3088-633_3088-566dup
ENST00000655275.1:c.3115-633_3115-566dup	ENSP00000499510.1:n.3115-633_3115-566dup
ENST00000449082.2:c.3088-630_3088-563dup	ENSP00000390600.2:n.3088-630_3088-563dup
NM_001293306.2:c.3088-633_3088-566dup	NP_001280235.2:n.3088-633_3088-566dup
NM_001293307.2:c.2794-630_2794-563dup	NP_001280236.2:n.2794-630_2794-563dup
NM_006514.3:c.3088-630_3088-563dup	NP_006505.3:n.3088-630_3088-563dup
XM_005265371.2:c.3097-630_3097-563dup	XP_005265428.1:n.3097-630_3097-563dup
XM_011533993.1:c.3097-633_3097-566dup	XP_011532295.1:n.3097-633_3097-566dup
XM_011533994.1:c.2803-630_2803-563dup	XP_011532296.1:n.2803-630_2803-563dup
XM_005265371.3:c.3097-630_3097-563dup	XP_005265428.1:n.3097-630_3097-563dup
XM_011533993.2:c.3097-633_3097-566dup	XP_011532295.1:n.3097-633_3097-566dup
XM_011533994.2:c.2803-630_2803-563dup	XP_011532296.1:n.2803-630_2803-563dup
NM_006514.4:c.3088-630_3088-563dup MANE Select	NP_006505.4:n.3088-630_3088-563dup