Canonical Allele Identifier: CA2697550816

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 2704661
• ClinVar RCV Id: RCV003539588

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38752206T>C , CM000665.2:g.38752206T>C	GRCh38
NC_000003.11:g.38793697T>C , CM000665.1:g.38793697T>C	GRCh37
NC_000003.10:g.38768701T>C	NCBI36
NG_031891.2:g.46805A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.1755+13A>G MANE Select	ENSP00000390600.2:n.1755+13A>G
ENST00000643924.1:c.1755+13A>G	ENSP00000495595.1:n.1755+13A>G
ENST00000655275.1:c.1782+13A>G	ENSP00000499510.1:n.1782+13A>G
ENST00000449082.2:c.1755+13A>G	ENSP00000390600.2:n.1755+13A>G
NM_001293306.2:c.1755+13A>G	NP_001280235.2:n.1755+13A>G
NM_001293307.2:c.1462-2022A>G	NP_001280236.2:n.1462-2022A>G
NM_006514.3:c.1755+13A>G	NP_006505.3:n.1755+13A>G
XM_005265371.2:c.1764+13A>G	XP_005265428.1:n.1764+13A>G
XM_011533993.1:c.1764+13A>G	XP_011532295.1:n.1764+13A>G
XM_011533994.1:c.1471-2022A>G	XP_011532296.1:n.1471-2022A>G
XM_005265371.3:c.1764+13A>G	XP_005265428.1:n.1764+13A>G
XM_011533993.2:c.1764+13A>G	XP_011532295.1:n.1764+13A>G
XM_011533994.2:c.1471-2022A>G	XP_011532296.1:n.1471-2022A>G
NM_006514.4:c.1755+13A>G MANE Select	NP_006505.4:n.1755+13A>G