Canonical Allele Identifier: CA775532806

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs1441001802
• gnomAD v3: 17-80210185-A-G
• gnomAD v4: 17-80210185-A-G
• MyVariant Identifiers: chr17:g.78183984A>G (hg19) ; chr17:g.80210185A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210185A>G , CM000679.2:g.80210185A>G	GRCh38
NC_000017.10:g.78183984A>G , CM000679.1:g.78183984A>G	GRCh37
NC_000017.9:g.75798579A>G	NCBI36
NG_008229.1:g.15216T>C
NG_032778.1:g.45194A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+927A>G (CARD14)
ENST00000326317.11:c.*267T>C (SGSH) MANE Select	ENSP00000314606.6:n.*267T>C
ENST00000326317.10:c.*267T>C (SGSH)	ENSP00000314606.6:n.*267T>C
ENST00000572257.5:c.551+1886T>C (SGSH)
ENST00000573150.5:c.*986T>C (SGSH)	ENSP00000459280.1:n.*986T>C
ENST00000575282.5:n.4659T>C (SGSH)
NM_000199.3:c.*267T>C (SGSH)	NP_000190.1:n.*267T>C
XM_005257583.3:c.949+1886T>C (SGSH)	XP_005257640.1:n.949+1886T>C
NM_000199.4:c.*267T>C (SGSH)	NP_000190.1:n.*267T>C
NM_001352921.1:c.*863T>C (SGSH)	NP_001339850.1:n.*863T>C
NM_001352922.1:c.*826T>C (SGSH)	NP_001339851.1:n.*826T>C
NR_148201.1:n.1757T>C (SGSH)
XM_005257583.4:c.949+1886T>C (SGSH)	XP_005257640.1:n.949+1886T>C
XM_017024952.1:c.*1680T>C (SGSH)	XP_016880441.1:n.*1680T>C
XR_001752585.1:n.1796T>C (SGSH)
XR_001752586.1:n.969+1886T>C (SGSH)
XR_001752587.1:n.969+1886T>C (SGSH)
XR_001752588.1:n.969+1886T>C (SGSH)
XR_001752589.1:n.969+1886T>C (SGSH)
XR_001752590.1:n.969+1886T>C (SGSH)
XR_001752591.1:n.969+1886T>C (SGSH)
XR_001752592.1:n.969+1886T>C (SGSH)
XR_002958057.1:n.1024+1684T>C (SGSH)
NM_000199.5:c.*267T>C (SGSH) MANE Select	NP_000190.1:n.*267T>C
NM_001352921.2:c.*863T>C (SGSH)	NP_001339850.1:n.*863T>C
NM_001352922.2:c.*826T>C (SGSH)	NP_001339851.1:n.*826T>C
NR_148201.2:n.1690T>C (SGSH)
NM_001352921.3:c.*863T>C (SGSH)	NP_001339850.1:n.*863T>C