Canonical Allele Identifier: CA1047001984

Gene: SCN10A

Linked Data

• dbSNP Id: rs2063447937
• gnomAD v3: 3-38725794-A-C
• gnomAD v4: 3-38725794-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725794A>C , CM000665.2:g.38725794A>C	GRCh38
NC_000003.11:g.38767285A>C , CM000665.1:g.38767285A>C	GRCh37
NC_000003.10:g.38742289A>C	NCBI36
NG_031891.2:g.73217T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3088-480T>G MANE Select	ENSP00000390600.2:n.3088-480T>G
ENST00000643924.1:c.3088-483T>G	ENSP00000495595.1:n.3088-483T>G
ENST00000655275.1:c.3115-483T>G	ENSP00000499510.1:n.3115-483T>G
ENST00000449082.2:c.3088-480T>G	ENSP00000390600.2:n.3088-480T>G
NM_001293306.2:c.3088-483T>G	NP_001280235.2:n.3088-483T>G
NM_001293307.2:c.2794-480T>G	NP_001280236.2:n.2794-480T>G
NM_006514.3:c.3088-480T>G	NP_006505.3:n.3088-480T>G
XM_005265371.2:c.3097-480T>G	XP_005265428.1:n.3097-480T>G
XM_011533993.1:c.3097-483T>G	XP_011532295.1:n.3097-483T>G
XM_011533994.1:c.2803-480T>G	XP_011532296.1:n.2803-480T>G
XM_005265371.3:c.3097-480T>G	XP_005265428.1:n.3097-480T>G
XM_011533993.2:c.3097-483T>G	XP_011532295.1:n.3097-483T>G
XM_011533994.2:c.2803-480T>G	XP_011532296.1:n.2803-480T>G
NM_006514.4:c.3088-480T>G MANE Select	NP_006505.4:n.3088-480T>G