Canonical Allele Identifier: CA433336064

Gene: SCN11A

Linked Data

• dbSNP Id: rs1172020537
• gnomAD v2: 3-38936180-G-A
• gnomAD v4: 3-38894689-G-A
• MyVariant Identifiers: chr3:g.38936180G>A (hg19) ; chr3:g.38894689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38894689G>A , CM000665.2:g.38894689G>A	GRCh38
NC_000003.11:g.38936180G>A , CM000665.1:g.38936180G>A	GRCh37
NC_000003.10:g.38911184G>A	NCBI36
NG_033859.1:g.60873C>T
NG_033859.2:g.162298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.2679C>T MANE Select	ENSP00000307599.3:p.Thr893=
ENST00000668754.1:c.2679C>T	ENSP00000499569.1:p.Thr893=
ENST00000675223.1:c.2679C>T	ENSP00000502481.1:p.Thr893=
ENST00000675672.1:c.2679C>T	ENSP00000502446.1:p.Thr893=
ENST00000675892.1:c.2499C>T	ENSP00000502318.1:p.Thr833=
ENST00000676045.1:c.2723C>T	ENSP00000501685.1:n.2723C>T
ENST00000676176.1:c.2298C>T	ENSP00000501891.1:p.Thr766=
ENST00000302328.7:c.2679C>T	ENSP00000307599.3:p.Thr893=
ENST00000444237.2:c.2679C>T	ENSP00000408028.2:p.Thr893=
ENST00000456224.7:c.2679C>T	ENSP00000416757.3:p.Thr893=
NM_001287223.1:c.2679C>T	NP_001274152.1:p.Thr893=
NM_014139.2:c.2679C>T	NP_054858.2:p.Thr893=
XM_011533320.1:c.2679C>T	XP_011531622.1:p.Thr893=
XM_011533321.1:c.2016C>T	XP_011531623.1:p.Thr672=
XM_011533322.1:c.1227C>T	XP_011531624.1:p.Thr409=
NM_001349253.1:c.2679C>T	NP_001336182.1:p.Thr893=
XM_011533321.2:c.2016C>T	XP_011531623.1:p.Thr672=
XM_017005647.1:c.3054C>T	XP_016861136.1:p.Thr1018=
XM_017005648.1:c.2481C>T	XP_016861137.1:p.Thr827=
XM_017005650.1:c.2679C>T	XP_016861139.1:p.Thr893=
XM_017005651.1:c.2406C>T	XP_016861140.1:p.Thr802=
XM_017005652.1:c.2679C>T	XP_016861141.1:p.Thr893=
XM_017005653.1:c.1083C>T	XP_016861142.1:p.Thr361=
NM_001349253.2:c.2679C>T MANE Select	NP_001336182.1:p.Thr893=
NM_014139.3:c.2679C>T	NP_054858.2:p.Thr893=