Canonical Allele Identifier: CA906864390
Gene: SCN10A HGNC NCBI

Linked Data

dbSNP Id: rs539406222
gnomAD v3: 3-38723961-G-T
gnomAD v4: 3-38723961-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38723961G>T , CM000665.2:g.38723961G>T GRCh38
NC_000003.11:g.38765452G>T , CM000665.1:g.38765452G>T GRCh37
NC_000003.10:g.38740456G>T NCBI36
NG_031891.2:g.75050C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000449082.3:c.3229-408C>A MANE Select ENSP00000390600.2:n.3229-408C>A
ENST00000643924.1:c.3226-408C>A ENSP00000495595.1:n.3226-408C>A
ENST00000655275.1:c.3253-408C>A ENSP00000499510.1:n.3253-408C>A
ENST00000449082.2:c.3229-408C>A ENSP00000390600.2:n.3229-408C>A
NM_001293306.2:c.3226-408C>A NP_001280235.2:n.3226-408C>A
NM_001293307.2:c.2935-408C>A NP_001280236.2:n.2935-408C>A
NM_006514.3:c.3229-408C>A NP_006505.3:n.3229-408C>A
XM_005265371.2:c.3238-408C>A XP_005265428.1:n.3238-408C>A
XM_011533993.1:c.3235-408C>A XP_011532295.1:n.3235-408C>A
XM_011533994.1:c.2944-408C>A XP_011532296.1:n.2944-408C>A
XM_005265371.3:c.3238-408C>A XP_005265428.1:n.3238-408C>A
XM_011533993.2:c.3235-408C>A XP_011532295.1:n.3235-408C>A
XM_011533994.2:c.2944-408C>A XP_011532296.1:n.2944-408C>A
NM_006514.4:c.3229-408C>A MANE Select NP_006505.4:n.3229-408C>A