Canonical Allele Identifier: CA72969647

Gene: SCN11A

Linked Data

• dbSNP Id: rs547238235
• gnomAD v2: 3-39074181-C-G
• gnomAD v3: 3-39032690-C-G
• gnomAD v4: 3-39032690-C-G
• MyVariant Identifiers: chr3:g.39074181C>G (hg19) ; chr3:g.39032690C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.39032690C>G , CM000665.2:g.39032690C>G	GRCh38
NC_000003.11:g.39074181C>G , CM000665.1:g.39074181C>G	GRCh37
NC_000003.10:g.39049185C>G	NCBI36
NG_033859.2:g.24297G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302328.9:c.-403-187G>C MANE Select	ENSP00000307599.3:n.-403-187G>C
ENST00000665106.1:n.82-187G>C
ENST00000668754.1:c.-903-187G>C	ENSP00000499569.1:n.-903-187G>C
ENST00000674755.1:n.233-187G>C
ENST00000675269.1:n.125-187G>C
ENST00000676333.1:n.39-187G>C
XM_011534335.1:c.49-187G>C	XP_011532637.1:n.49-187G>C
XM_011534336.1:c.49-187G>C	XP_011532638.1:n.49-187G>C
XR_940736.1:n.79-187G>C
XR_940737.1:n.79-187G>C
XR_940738.1:n.79-187G>C
XR_940739.1:n.79-187G>C
NM_001349253.1:c.-403-187G>C	NP_001336182.1:n.-403-187G>C
NM_001349253.2:c.-403-187G>C MANE Select	NP_001336182.1:n.-403-187G>C
NR_164473.1:n.85-187G>C