Canonical Allele Identifier: CA7247198
Gene: SLC8A3 HGNC NCBI

Linked Data

dbSNP Id: rs41286548
ExAC: 14:70633411 C / T
gnomAD v2: 14-70633411-C-T
gnomAD v3: 14-70166694-C-T
gnomAD v4: 14-70166694-C-T
MyVariant Identifiers: chr14:g.70633411C>T (hg19) chr14:g.70166694C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.70166694C>T , CM000676.2:g.70166694C>T GRCh38
NC_000014.8:g.70633411C>T , CM000676.1:g.70633411C>T GRCh37
NC_000014.7:g.69703164C>T NCBI36
NG_047080.1:g.61919G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000528359.6:c.1729G>A ENSP00000433531.1:p.Gly577Ser
ENST00000705391.1:c.1729G>A ENSP00000516120.1:p.Gly577Ser
ENST00000356921.7:c.1729G>A MANE Select ENSP00000349392.3:p.Gly577Ser
ENST00000356921.6:c.1729G>A ENSP00000349392.2:p.Gly577Ser
ENST00000357887.7:c.1729G>A ENSP00000350560.3:p.Gly577Ser
ENST00000381269.6:c.1729G>A ENSP00000370669.2:p.Gly577Ser
ENST00000494208.5:c.1729G>A ENSP00000436332.1:p.Gly577Ser
ENST00000528359.5:c.1729G>A ENSP00000433531.1:p.Gly577Ser
ENST00000534137.5:c.1729G>A ENSP00000436688.1:p.Gly577Ser
NM_033262.4:c.1729G>A NP_150287.1:p.Gly577Ser
NM_058240.3:c.1729G>A NP_489479.1:p.Gly577Ser
NM_182932.2:c.1729G>A NP_891977.1:p.Gly577Ser
NM_183002.2:c.1729G>A NP_892114.1:p.Gly577Ser
NR_104122.1:n.2483G>A
XM_005268017.1:c.1729G>A XP_005268074.1:p.Gly577Ser
XM_005268018.2:c.1198G>A XP_005268075.2:p.Gly400Ser
XM_011537101.1:c.1729G>A XP_011535403.1:p.Gly577Ser
XM_011537102.1:c.1729G>A XP_011535404.1:p.Gly577Ser
XM_017021606.1:c.1729G>A XP_016877095.1:p.Gly577Ser
XM_017021607.1:c.1729G>A XP_016877096.1:p.Gly577Ser
XM_017021608.1:c.1729G>A XP_016877097.1:p.Gly577Ser
XM_017021609.1:c.1729G>A XP_016877098.1:p.Gly577Ser
XM_017021610.1:c.1729G>A XP_016877099.1:p.Gly577Ser
NM_058240.4:c.1729G>A NP_489479.1:p.Gly577Ser
NM_182932.3:c.1729G>A MANE Select NP_891977.1:p.Gly577Ser
NM_183002.3:c.1729G>A NP_892114.1:p.Gly577Ser
NR_104122.2:n.2364G>A
NM_033262.5:c.1729G>A NP_150287.1:p.Gly577Ser
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