Canonical Allele Identifier: CA2320789

Gene: SCN10A

Linked Data

• dbSNP Id: rs746766606
• ExAC: 3:38793787 GGTT / G
• gnomAD v2: 3-38793787-GGTT-G
• gnomAD v4: 3-38752296-GGTT-G
• MyVariant Identifiers: chr3:g.38793788_38793790del (hg19) ; chr3:g.38752297_38752299del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752298_38752300del , CM000665.2:g.38752298_38752300del	GRCh38
NC_000003.11:g.38793789_38793791del , CM000665.1:g.38793789_38793791del	GRCh37
NC_000003.10:g.38768793_38768795del	NCBI36
NG_031891.2:g.46712_46714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1675_1677del MANE Select	ENSP00000390600.2:p.Asn559del
ENST00000643924.1:c.1675_1677del	ENSP00000495595.1:p.Asn559del
ENST00000655275.1:c.1702_1704del	ENSP00000499510.1:p.Asn568del
ENST00000449082.2:c.1675_1677del	ENSP00000390600.2:p.Asn559del
NM_001293306.2:c.1675_1677del	NP_001280235.2:p.Asn559del
NM_001293307.2:c.1462-2115_1462-2113del	NP_001280236.2:n.1462-2115_1462-2113del
NM_006514.3:c.1675_1677del	NP_006505.3:p.Asn559del
XM_005265371.2:c.1684_1686del	XP_005265428.1:p.Asn562del
XM_011533993.1:c.1684_1686del	XP_011532295.1:p.Asn562del
XM_011533994.1:c.1471-2115_1471-2113del	XP_011532296.1:n.1471-2115_1471-2113del
XM_005265371.3:c.1684_1686del	XP_005265428.1:p.Asn562del
XM_011533993.2:c.1684_1686del	XP_011532295.1:p.Asn562del
XM_011533994.2:c.1471-2115_1471-2113del	XP_011532296.1:n.1471-2115_1471-2113del
NM_006514.4:c.1675_1677del MANE Select	NP_006505.4:p.Asn559del