Canonical Allele Identifier: CA6299968

Gene: SCN4B

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.118134148A>G , CM000673.2:g.118134148A>G	GRCh38
NC_000011.9:g.118004863A>G , CM000673.1:g.118004863A>G	GRCh37
NC_000011.8:g.117510073A>G	NCBI36
NG_011710.1:g.23768T>C , LRG_330:g.23768T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324727.9:c.*2879T>C MANE Select	ENSP00000322460.4:n.*2879T>C
ENST00000324727.8:c.*2879T>C	ENSP00000322460.4:n.*2879T>C
ENST00000415030.6:n.3709T>C
ENST00000423160.2:n.3200T>C
NM_001142348.1:c.*2879T>C	NP_001135820.1:n.*2879T>C
NM_001142349.1:c.*2879T>C	NP_001135821.1:n.*2879T>C
NM_174934.3:c.*2879T>C , LRG_330t1:c.*2879T>C	NP_777594.1:n.*2879T>C
NR_024527.1:n.3591T>C
NM_001142348.2:c.*2879T>C	NP_001135820.1:n.*2879T>C
NM_001142349.2:c.*2879T>C	NP_001135821.1:n.*2879T>C
NR_024527.2:n.3555T>C
NM_174934.4:c.*2879T>C MANE Select	NP_777594.1:n.*2879T>C