Canonical Allele Identifier: CA382777493

Gene: SCN4B

Linked Data

• MyVariant Identifiers: chr11:g.118011962T>G (hg19) ; chr11:g.118141247T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118141247T>G , CM000673.2:g.118141247T>G	GRCh38
NC_000011.9:g.118011962T>G , CM000673.1:g.118011962T>G	GRCh37
NC_000011.8:g.117517172T>G	NCBI36
NG_011710.1:g.16669A>C , LRG_330:g.16669A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.553A>C MANE Select	ENSP00000322460.4:p.Lys185Gln
ENST00000324727.8:c.553A>C	ENSP00000322460.4:p.Lys185Gln
ENST00000415030.6:n.696A>C
ENST00000423160.2:n.187A>C
ENST00000529878.1:c.151A>C	ENSP00000436343.1:p.Lys51Gln
ENST00000531550.1:n.618A>C
ENST00000532138.1:n.809A>C
NM_001142348.1:c.151A>C	NP_001135820.1:p.Lys51Gln
NM_001142349.1:c.223A>C	NP_001135821.1:p.Lys75Gln
NM_174934.3:c.553A>C , LRG_330t1:c.553A>C	NP_777594.1:p.Lys185Gln
NR_024527.1:n.578A>C
NM_001142348.2:c.151A>C	NP_001135820.1:p.Lys51Gln
NM_001142349.2:c.223A>C	NP_001135821.1:p.Lys75Gln
NR_024527.2:n.542A>C
NM_174934.4:c.553A>C MANE Select	NP_777594.1:p.Lys185Gln