Canonical Allele Identifier: CA2320269

Gene: SCN10A

Linked Data

• dbSNP Id: rs773957562
• ExAC: 3:38764896 AG / A
• gnomAD v2: 3-38764896-AG-A
• gnomAD v4: 3-38723405-AG-A
• MyVariant Identifiers: chr3:g.38764897del (hg19) ; chr3:g.38723406del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38723410del , CM000665.2:g.38723410del	GRCh38
NC_000003.11:g.38764901del , CM000665.1:g.38764901del	GRCh37
NC_000003.10:g.38739905del	NCBI36
NG_031891.2:g.75605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3352+24del MANE Select	ENSP00000390600.2:n.3352+24del
ENST00000643924.1:c.3349+24del	ENSP00000495595.1:n.3349+24del
ENST00000655275.1:c.3376+24del	ENSP00000499510.1:n.3376+24del
ENST00000449082.2:c.3352+24del	ENSP00000390600.2:n.3352+24del
NM_001293306.2:c.3349+24del	NP_001280235.2:n.3349+24del
NM_001293307.2:c.3058+24del	NP_001280236.2:n.3058+24del
NM_006514.3:c.3352+24del	NP_006505.3:n.3352+24del
XM_005265371.2:c.3361+24del	XP_005265428.1:n.3361+24del
XM_011533993.1:c.3358+24del	XP_011532295.1:n.3358+24del
XM_011533994.1:c.3067+24del	XP_011532296.1:n.3067+24del
XM_005265371.3:c.3361+24del	XP_005265428.1:n.3361+24del
XM_011533993.2:c.3358+24del	XP_011532295.1:n.3358+24del
XM_011533994.2:c.3067+24del	XP_011532296.1:n.3067+24del
NM_006514.4:c.3352+24del MANE Select	NP_006505.4:n.3352+24del