Canonical Allele Identifier: CA2625465267

Gene: SLC8A3

Linked Data

• gnomAD v4: 14-70166499-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.70166499G>A , CM000676.2:g.70166499G>A	GRCh38
NC_000014.8:g.70633216G>A , CM000676.1:g.70633216G>A	GRCh37
NC_000014.7:g.69702969G>A	NCBI36
NG_047080.1:g.62114C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528359.6:c.1784+140C>T	ENSP00000433531.1:n.1784+140C>T
ENST00000705391.1:c.1784+140C>T	ENSP00000516120.1:n.1784+140C>T
ENST00000356921.7:c.1784+140C>T MANE Select	ENSP00000349392.3:n.1784+140C>T
ENST00000356921.6:c.1784+140C>T	ENSP00000349392.2:n.1784+140C>T
ENST00000357887.7:c.1784+140C>T	ENSP00000350560.3:n.1784+140C>T
ENST00000381269.6:c.1784+140C>T	ENSP00000370669.2:n.1784+140C>T
ENST00000494208.5:c.1784+140C>T	ENSP00000436332.1:n.1784+140C>T
ENST00000528359.5:c.1784+140C>T	ENSP00000433531.1:n.1784+140C>T
ENST00000534137.5:c.1784+140C>T	ENSP00000436688.1:n.1784+140C>T
NM_033262.4:c.1784+140C>T	NP_150287.1:n.1784+140C>T
NM_058240.3:c.1784+140C>T	NP_489479.1:n.1784+140C>T
NM_182932.2:c.1784+140C>T	NP_891977.1:n.1784+140C>T
NM_183002.2:c.1784+140C>T	NP_892114.1:n.1784+140C>T
NR_104122.1:n.2538+140C>T
XM_005268017.1:c.1784+140C>T	XP_005268074.1:n.1784+140C>T
XM_005268018.2:c.1253+140C>T	XP_005268075.2:n.1253+140C>T
XM_011537101.1:c.1784+140C>T	XP_011535403.1:n.1784+140C>T
XM_011537102.1:c.1784+140C>T	XP_011535404.1:n.1784+140C>T
XM_017021606.1:c.1784+140C>T	XP_016877095.1:n.1784+140C>T
XM_017021607.1:c.1784+140C>T	XP_016877096.1:n.1784+140C>T
XM_017021608.1:c.1784+140C>T	XP_016877097.1:n.1784+140C>T
XM_017021609.1:c.1784+140C>T	XP_016877098.1:n.1784+140C>T
XM_017021610.1:c.1796C>T	XP_016877099.1:p.Ser599Leu
NM_058240.4:c.1784+140C>T	NP_489479.1:n.1784+140C>T
NM_182932.3:c.1784+140C>T MANE Select	NP_891977.1:n.1784+140C>T
NM_183002.3:c.1784+140C>T	NP_892114.1:n.1784+140C>T
NR_104122.2:n.2419+140C>T
NM_033262.5:c.1784+140C>T	NP_150287.1:n.1784+140C>T