Canonical Allele Identifier: CA8817730

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs749185721
• ExAC: 17:78185764 A / G
• gnomAD v2: 17-78185764-A-G
• gnomAD v3: 17-80211965-A-G
• gnomAD v4: 17-80211965-A-G
• MyVariant Identifiers: chr17:g.78185764A>G (hg19) ; chr17:g.80211965A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80211965A>G , CM000679.2:g.80211965A>G	GRCh38
NC_000017.10:g.78185764A>G , CM000679.1:g.78185764A>G	GRCh37
NC_000017.9:g.75800359A>G	NCBI36
NG_008229.1:g.13436T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+2707A>G (CARD14)
ENST00000326317.11:c.949+106T>C (SGSH) MANE Select	ENSP00000314606.6:n.949+106T>C
ENST00000326317.10:c.949+106T>C (SGSH)	ENSP00000314606.6:n.949+106T>C
ENST00000570923.1:c.*265T>C (SGSH)	ENSP00000458200.1:n.*265T>C
ENST00000572257.5:c.551+106T>C (SGSH)
ENST00000573150.5:c.*159+106T>C (SGSH)	ENSP00000459280.1:n.*159+106T>C
ENST00000575282.5:n.2879T>C (SGSH)
ENST00000576856.1:c.149-42T>C (SGSH)	ENSP00000460720.1:n.149-42T>C
NM_000199.3:c.949+106T>C (SGSH)	NP_000190.1:n.949+106T>C
XM_005257582.2:c.949+106T>C (SGSH)	XP_005257639.1:n.949+106T>C
XM_005257583.3:c.949+106T>C (SGSH)	XP_005257640.1:n.949+106T>C
XM_011525126.1:c.950-42T>C (SGSH)	XP_011523428.1:n.950-42T>C
XM_011525127.1:c.950-42T>C (SGSH)	XP_011523429.1:n.950-42T>C
XR_934532.1:n.1075T>C (SGSH)
NM_000199.4:c.949+106T>C (SGSH)	NP_000190.1:n.949+106T>C
NM_001352921.1:c.949+106T>C (SGSH)	NP_001339850.1:n.949+106T>C
NM_001352922.1:c.950-42T>C (SGSH)	NP_001339851.1:n.950-42T>C
NR_148201.1:n.930+106T>C (SGSH)
XM_005257583.4:c.949+106T>C (SGSH)	XP_005257640.1:n.949+106T>C
XM_017024952.1:c.950-42T>C (SGSH)	XP_016880441.1:n.950-42T>C
XR_001752585.1:n.969+106T>C (SGSH)
XR_001752586.1:n.969+106T>C (SGSH)
XR_001752587.1:n.969+106T>C (SGSH)
XR_001752588.1:n.969+106T>C (SGSH)
XR_001752589.1:n.969+106T>C (SGSH)
XR_001752590.1:n.969+106T>C (SGSH)
XR_001752591.1:n.969+106T>C (SGSH)
XR_001752592.1:n.969+106T>C (SGSH)
XR_002958057.1:n.970-42T>C (SGSH)
XR_934532.2:n.1075T>C (SGSH)
NM_000199.5:c.949+106T>C (SGSH) MANE Select	NP_000190.1:n.949+106T>C
NM_001352921.2:c.949+106T>C (SGSH)	NP_001339850.1:n.949+106T>C
NM_001352922.2:c.950-42T>C (SGSH)	NP_001339851.1:n.950-42T>C
NR_148201.2:n.863+106T>C (SGSH)
NM_001352921.3:c.949+106T>C (SGSH)	NP_001339850.1:n.949+106T>C