Canonical Allele Identifier: CA15234718
Gene: SCN11A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39013826C>T , CM000665.2:g.39013826C>T GRCh38
NC_000003.11:g.39055317C>T , CM000665.1:g.39055317C>T GRCh37
NC_000003.10:g.39030321C>T NCBI36
NG_033859.2:g.43161G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000302328.9:c.-280+18554G>A MANE Select ENSP00000307599.3:n.-280+18554G>A
ENST00000665106.1:n.205+18554G>A
ENST00000668754.1:c.-780+18554G>A ENSP00000499569.1:n.-780+18554G>A
ENST00000675269.1:n.248+18554G>A
ENST00000676333.1:n.162+18554G>A
XM_011534335.1:c.172+18554G>A XP_011532637.1:n.172+18554G>A
XM_011534336.1:c.172+18554G>A XP_011532638.1:n.172+18554G>A
XR_940736.1:n.202+18554G>A
XR_940737.1:n.202+18554G>A
NM_001349253.1:c.-280+18554G>A NP_001336182.1:n.-280+18554G>A
NM_001349253.2:c.-280+18554G>A MANE Select NP_001336182.1:n.-280+18554G>A
NR_164473.1:n.208+18554G>A
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