Canonical Allele Identifier: CA6300190

Gene: SCN4B

Linked Data

• ClinVar Variation Id: 1331417
• ClinVar RCV Id: RCV001806761
• dbSNP Id: rs72546675
• ExAC: 11:118012035 G / C
• gnomAD v2: 11-118012035-G-C
• gnomAD v4: 11-118141320-G-C
• MyVariant Identifiers: chr11:g.118012035G>C (hg19) ; chr11:g.118141320G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141320G>C , CM000673.2:g.118141320G>C	GRCh38
NC_000011.9:g.118012035G>C , CM000673.1:g.118012035G>C	GRCh37
NC_000011.8:g.117517245G>C	NCBI36
NG_011710.1:g.16596C>G , LRG_330:g.16596C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324727.9:c.480C>G MANE Select	ENSP00000322460.4:p.Asn160Lys
ENST00000324727.8:c.480C>G	ENSP00000322460.4:p.Asn160Lys
ENST00000415030.6:n.623C>G
ENST00000423160.2:n.114C>G
ENST00000529878.1:c.78C>G	ENSP00000436343.1:p.Asn26Lys
ENST00000531550.1:n.545C>G
ENST00000532138.1:n.736C>G
NM_001142348.1:c.78C>G	NP_001135820.1:p.Asn26Lys
NM_001142349.1:c.150C>G	NP_001135821.1:p.Asn50Lys
NM_174934.3:c.480C>G , LRG_330t1:c.480C>G	NP_777594.1:p.Asn160Lys
NR_024527.1:n.505C>G
NM_001142348.2:c.78C>G	NP_001135820.1:p.Asn26Lys
NM_001142349.2:c.150C>G	NP_001135821.1:p.Asn50Lys
NR_024527.2:n.469C>G
NM_174934.4:c.480C>G MANE Select	NP_777594.1:p.Asn160Lys