Canonical Allele Identifier: CA178051

Gene: STRC

Linked Data

• ClinVar Variation Id: 165312
• ClinVar RCV Id: RCV000151951 ; RCV002467598
• dbSNP Id: rs2920780
• ExAC: 15:43897499 T / C
• gnomAD v2: 15-43897499-T-C
• gnomAD v3: 15-43605301-T-C
• gnomAD v4: 15-43605301-T-C
• MyVariant Identifiers: chr15:g.43897499T>C (hg19) ; chr15:g.43605301T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43605301T>C , CM000677.2:g.43605301T>C	GRCh38
NC_000015.9:g.43897499T>C , CM000677.1:g.43897499T>C	GRCh37
NC_000015.8:g.41684791T>C	NCBI36
NG_011636.1:g.18500A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.3893A>G MANE Select	ENSP00000401513.2:p.His1298Arg
ENST00000428650.5:c.*925A>G	ENSP00000415991.1:n.*925A>G
ENST00000440125.5:c.*1685A>G	ENSP00000394866.1:n.*1685A>G
ENST00000448437.6:n.1665+2562A>G
ENST00000450892.6:c.3893A>G	ENSP00000401513.2:p.His1298Arg
ENST00000455136.5:c.924A>G
ENST00000471703.5:n.1676A>G
ENST00000485556.5:n.2786-455A>G
ENST00000541030.5:c.1574A>G	ENSP00000440413.1:p.His525Arg
NM_153700.2:c.3893A>G MANE Select	NP_714544.1:p.His1298Arg
XM_011521277.1:c.4382A>G	XP_011519579.1:p.His1461Arg
XM_011521278.1:c.3998A>G	XP_011519580.1:p.His1333Arg
XM_011521279.1:c.3998A>G	XP_011519581.1:p.His1333Arg