Canonical Allele Identifier: CA401362821

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80214685-G-C
• MyVariant Identifiers: chr17:g.78188484G>C (hg19) ; chr17:g.80214685G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214685G>C , CM000679.2:g.80214685G>C	GRCh38
NC_000017.10:g.78188484G>C , CM000679.1:g.78188484G>C	GRCh37
NC_000017.9:g.75803079G>C	NCBI36
NG_008229.1:g.10716C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1181G>C (CARD14)
ENST00000326317.11:c.436C>G (SGSH) MANE Select	ENSP00000314606.6:p.Leu146Val
ENST00000326317.10:c.436C>G (SGSH)	ENSP00000314606.6:p.Leu146Val
ENST00000570427.1:c.454C>G (SGSH)	ENSP00000459765.1:p.Leu152Val
ENST00000570923.1:c.471C>G (SGSH)	ENSP00000458200.1:p.Ser157=
ENST00000571051.5:n.375+348C>G (SGSH)
ENST00000571675.5:n.456C>G (SGSH)
ENST00000572208.5:n.373+348C>G (SGSH)
ENST00000572257.5:c.38C>G (SGSH)
ENST00000573150.5:c.330C>G (SGSH)	ENSP00000459280.1:p.Ser110=
ENST00000574505.5:c.301-6C>G (SGSH)
ENST00000575282.5:n.445C>G (SGSH)
ENST00000576707.5:c.175C>G (SGSH)	ENSP00000461128.1:p.Leu59Val
ENST00000576941.5:c.250-357C>G (SGSH)	ENSP00000461160.1:n.250-357C>G
NM_000199.3:c.436C>G (SGSH)	NP_000190.1:p.Leu146Val
XM_005257582.2:c.436C>G (SGSH)	XP_005257639.1:p.Leu146Val
XM_005257583.3:c.436C>G (SGSH)	XP_005257640.1:p.Leu146Val
XM_011525126.1:c.436C>G (SGSH)	XP_011523428.1:p.Leu146Val
XM_011525127.1:c.436C>G (SGSH)	XP_011523429.1:p.Leu146Val
XR_934532.1:n.456C>G (SGSH)
NM_000199.4:c.436C>G (SGSH)	NP_000190.1:p.Leu146Val
NM_001352921.1:c.436C>G (SGSH)	NP_001339850.1:p.Leu146Val
NM_001352922.1:c.436C>G (SGSH)	NP_001339851.1:p.Leu146Val
NR_148201.1:n.417C>G (SGSH)
XM_005257583.4:c.436C>G (SGSH)	XP_005257640.1:p.Leu146Val
XM_017024952.1:c.436C>G (SGSH)	XP_016880441.1:p.Leu146Val
XR_001752585.1:n.456C>G (SGSH)
XR_001752586.1:n.456C>G (SGSH)
XR_001752587.1:n.456C>G (SGSH)
XR_001752588.1:n.456C>G (SGSH)
XR_001752589.1:n.456C>G (SGSH)
XR_001752590.1:n.456C>G (SGSH)
XR_001752591.1:n.456C>G (SGSH)
XR_001752592.1:n.456C>G (SGSH)
XR_002958057.1:n.456C>G (SGSH)
XR_934532.2:n.456C>G (SGSH)
NM_000199.5:c.436C>G (SGSH) MANE Select	NP_000190.1:p.Leu146Val
NM_001352921.2:c.436C>G (SGSH)	NP_001339850.1:p.Leu146Val
NM_001352922.2:c.436C>G (SGSH)	NP_001339851.1:p.Leu146Val
NR_148201.2:n.350C>G (SGSH)
NM_001352921.3:c.436C>G (SGSH)	NP_001339850.1:p.Leu146Val