Canonical Allele Identifier: CA2440755

Gene: STAB1

Linked Data

• ClinVar Variation Id: 2359783
• ClinVar RCV Id: RCV002978456
• dbSNP Id: rs539676327
• ExAC: 3:52540786 C / G
• gnomAD v2: 3-52540786-C-G
• gnomAD v3: 3-52506770-C-G
• gnomAD v4: 3-52506770-C-G
• MyVariant Identifiers: chr3:g.52540786C>G (hg19) ; chr3:g.52506770C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52506770C>G , CM000665.2:g.52506770C>G	GRCh38
NC_000003.11:g.52540786C>G , CM000665.1:g.52540786C>G	GRCh37
NC_000003.10:g.52515826C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000321725.10:c.1909C>G MANE Select	ENSP00000312946.6:p.Leu637Val
ENST00000481607.1:n.1964C>G
NM_015136.2:c.1909C>G	NP_055951.2:p.Leu637Val
XM_005264973.2:c.1909C>G	XP_005265030.1:p.Leu637Val
XM_005264974.2:c.1909C>G	XP_005265031.1:p.Leu637Val
XM_005264975.2:c.1909C>G	XP_005265032.1:p.Leu637Val
XM_006713065.1:c.1909C>G	XP_006713128.1:p.Leu637Val
XM_011533528.1:c.1909C>G	XP_011531830.1:p.Leu637Val
XR_940395.1:n.1985C>G
XM_005264973.3:c.1909C>G	XP_005265030.1:p.Leu637Val
XM_017005998.1:c.1909C>G	XP_016861487.1:p.Leu637Val
XM_017005999.1:c.1909C>G	XP_016861488.1:p.Leu637Val
XM_017006000.1:c.1909C>G	XP_016861489.1:p.Leu637Val
XM_017006001.1:c.1909C>G	XP_016861490.1:p.Leu637Val
XM_017006002.1:c.1909C>G	XP_016861491.1:p.Leu637Val
XM_017006003.1:c.1909C>G	XP_016861492.1:p.Leu637Val
XM_017006004.2:c.1909C>G	XP_016861493.1:p.Leu637Val
XR_001740064.1:n.1985C>G
NM_015136.3:c.1909C>G MANE Select	NP_055951.2:p.Leu637Val