Canonical Allele Identifier: CA172612156
Gene: SGCZ HGNC NCBI

Linked Data

dbSNP Id: rs9886428
gnomAD v2: 8-14113816-G-A
gnomAD v3: 8-14256307-G-A
gnomAD v4: 8-14256307-G-A
MyVariant Identifiers: chr8:g.14113816G>A (hg19) chr8:g.14256307G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.14256307G>A , CM000670.2:g.14256307G>A GRCh38
NC_000008.10:g.14113816G>A , CM000670.1:g.14113816G>A GRCh37
NC_000008.9:g.14158187G>A NCBI36
NG_008899.1:g.986977C>T , LRG_208:g.986977C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382080.6:c.337-18628C>T MANE Select ENSP00000371512.1:n.337-18628C>T
ENST00000382080.5:c.337-18628C>T ENSP00000371512.1:n.337-18628C>T
ENST00000421524.6:c.196-18628C>T ENSP00000405224.2:n.196-18628C>T
ENST00000613692.1:c.-57-18628C>T ENSP00000481839.1:n.-57-18628C>T
NM_139167.2:c.337-18628C>T , LRG_208t1:c.337-18628C>T NP_631906.2:n.337-18628C>T
NM_001322879.1:c.235-18628C>T NP_001309808.1:n.235-18628C>T
NM_001322880.1:c.337-18628C>T NP_001309809.1:n.337-18628C>T
NM_001322881.1:c.115-18628C>T NP_001309810.1:n.115-18628C>T
NM_139167.3:c.337-18628C>T NP_631906.2:n.337-18628C>T
NM_139167.4:c.337-18628C>T MANE Select NP_631906.2:n.337-18628C>T
NM_001322879.2:c.235-18628C>T NP_001309808.1:n.235-18628C>T
NM_001322880.2:c.337-18628C>T NP_001309809.1:n.337-18628C>T
NM_001322881.2:c.115-18628C>T NP_001309810.1:n.115-18628C>T
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