Canonical Allele Identifier: CA294890668

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs558089661
• gnomAD v3: 17-80210749-G-A
• gnomAD v4: 17-80210749-G-A
• MyVariant Identifiers: chr17:g.78184548G>A (hg19) ; chr17:g.80210749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210749G>A , CM000679.2:g.80210749G>A	GRCh38
NC_000017.10:g.78184548G>A , CM000679.1:g.78184548G>A	GRCh37
NC_000017.9:g.75799143G>A	NCBI36
NG_008229.1:g.14652C>T
NG_032778.1:g.45758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1491G>A (CARD14)
ENST00000326317.11:c.1212C>T (SGSH) MANE Select	ENSP00000314606.6:p.Val404=
ENST00000326317.10:c.1212C>T (SGSH)	ENSP00000314606.6:p.Val404=
ENST00000572257.5:c.551+1322C>T (SGSH)
ENST00000573150.5:c.*422C>T (SGSH)	ENSP00000459280.1:n.*422C>T
ENST00000575282.5:n.4095C>T (SGSH)
ENST00000576856.1:c.466C>T (SGSH)	ENSP00000460720.1:n.466C>T
NM_000199.3:c.1212C>T (SGSH)	NP_000190.1:p.Val404=
XM_005257583.3:c.949+1322C>T (SGSH)	XP_005257640.1:n.949+1322C>T
NM_000199.4:c.1212C>T (SGSH)	NP_000190.1:p.Val404=
NM_001352921.1:c.*299C>T (SGSH)	NP_001339850.1:n.*299C>T
NM_001352922.1:c.*262C>T (SGSH)	NP_001339851.1:n.*262C>T
NR_148201.1:n.1193C>T (SGSH)
XM_005257583.4:c.949+1322C>T (SGSH)	XP_005257640.1:n.949+1322C>T
XM_017024952.1:c.*1116C>T (SGSH)	XP_016880441.1:n.*1116C>T
XR_001752585.1:n.1232C>T (SGSH)
XR_001752586.1:n.969+1322C>T (SGSH)
XR_001752587.1:n.969+1322C>T (SGSH)
XR_001752588.1:n.969+1322C>T (SGSH)
XR_001752589.1:n.969+1322C>T (SGSH)
XR_001752590.1:n.969+1322C>T (SGSH)
XR_001752591.1:n.969+1322C>T (SGSH)
XR_001752592.1:n.969+1322C>T (SGSH)
XR_002958057.1:n.1024+1120C>T (SGSH)
NM_000199.5:c.1212C>T (SGSH) MANE Select	NP_000190.1:p.Val404=
NM_001352921.2:c.*299C>T (SGSH)	NP_001339850.1:n.*299C>T
NM_001352922.2:c.*262C>T (SGSH)	NP_001339851.1:n.*262C>T
NR_148201.2:n.1126C>T (SGSH)
NM_001352921.3:c.*299C>T (SGSH)	NP_001339850.1:n.*299C>T