Canonical Allele Identifier: CA9446116
Gene: SPTBN4 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.40529005G>A
GRCh37 chr19:g.41034912G>A
gnomAD v2:
19:41034912 G / A
gnomAD v3:
19:40529005 G / A
gnomAD v4:
chr19-40529005-G-A
Joint Max Group AF 0.51932446 (NFE)
Genomes Max Group AF 0.51174999 (NFE)
Exomes Max Group AF 0.51955129 (NFE)
ClinVar RCV:
RCV001608399
RCV001810118
ClinVar Variation:
1224941
dbSNP:
1461008
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40529005G>A , CM000681.2:g.40529005G>A GRCh38
NC_000019.9:g.41034912G>A , CM000681.1:g.41034912G>A GRCh37
NC_000019.8:g.45726752G>A NCBI36
NG_029905.1:g.66787G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000598249.6:c.3858-36G>A MANE Select ENSP00000469242.1:n.3858-36G>A
ENST00000338932.7:c.3858-36G>A ENSP00000340345.4:n.3858-36G>A
ENST00000352632.7:c.3858-36G>A ENSP00000263373.2:n.3858-36G>A
ENST00000392025.5:c.3858-36G>A ENSP00000375879.2:n.3858-36G>A
ENST00000595535.5:c.3858-36G>A ENSP00000470693.1:n.3858-36G>A
ENST00000597389.5:c.2120-36G>A ENSP00000472136.1:n.2120-36G>A
ENST00000598249.5:c.3858-36G>A ENSP00000469242.1:n.3858-36G>A
NM_020971.2:c.3858-36G>A NP_066022.2:n.3858-36G>A
XM_011527172.1:c.3858-36G>A XP_011525474.1:n.3858-36G>A
XM_011527173.1:c.3858-36G>A XP_011525475.1:n.3858-36G>A
XM_011527173.2:c.3858-36G>A XP_011525475.1:n.3858-36G>A
XM_017027049.1:c.3858-36G>A XP_016882538.1:n.3858-36G>A
XM_017027050.1:c.3516-36G>A XP_016882539.1:n.3516-36G>A
XM_017027051.1:c.3858-36G>A XP_016882540.1:n.3858-36G>A
NM_020971.3:c.3858-36G>A MANE Select NP_066022.2:n.3858-36G>A
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