Canonical Allele Identifier: CA775532832

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs1280868589
• gnomAD v3: 17-80210263-C-G
• gnomAD v4: 17-80210263-C-G
• MyVariant Identifiers: chr17:g.78184062C>G (hg19) ; chr17:g.80210263C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210263C>G , CM000679.2:g.80210263C>G	GRCh38
NC_000017.10:g.78184062C>G , CM000679.1:g.78184062C>G	GRCh37
NC_000017.9:g.75798657C>G	NCBI36
NG_008229.1:g.15138G>C
NG_032778.1:g.45272C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1005C>G (CARD14)
ENST00000326317.11:c.*189G>C (SGSH) MANE Select	ENSP00000314606.6:n.*189G>C
ENST00000326317.10:c.*189G>C (SGSH)	ENSP00000314606.6:n.*189G>C
ENST00000572257.5:c.551+1808G>C (SGSH)
ENST00000573150.5:c.*908G>C (SGSH)	ENSP00000459280.1:n.*908G>C
ENST00000575282.5:n.4581G>C (SGSH)
NM_000199.3:c.*189G>C (SGSH)	NP_000190.1:n.*189G>C
XM_005257583.3:c.949+1808G>C (SGSH)	XP_005257640.1:n.949+1808G>C
NM_000199.4:c.*189G>C (SGSH)	NP_000190.1:n.*189G>C
NM_001352921.1:c.*785G>C (SGSH)	NP_001339850.1:n.*785G>C
NM_001352922.1:c.*748G>C (SGSH)	NP_001339851.1:n.*748G>C
NR_148201.1:n.1679G>C (SGSH)
XM_005257583.4:c.949+1808G>C (SGSH)	XP_005257640.1:n.949+1808G>C
XM_017024952.1:c.*1602G>C (SGSH)	XP_016880441.1:n.*1602G>C
XR_001752585.1:n.1718G>C (SGSH)
XR_001752586.1:n.969+1808G>C (SGSH)
XR_001752587.1:n.969+1808G>C (SGSH)
XR_001752588.1:n.969+1808G>C (SGSH)
XR_001752589.1:n.969+1808G>C (SGSH)
XR_001752590.1:n.969+1808G>C (SGSH)
XR_001752591.1:n.969+1808G>C (SGSH)
XR_001752592.1:n.969+1808G>C (SGSH)
XR_002958057.1:n.1024+1606G>C (SGSH)
NM_000199.5:c.*189G>C (SGSH) MANE Select	NP_000190.1:n.*189G>C
NM_001352921.2:c.*785G>C (SGSH)	NP_001339850.1:n.*785G>C
NM_001352922.2:c.*748G>C (SGSH)	NP_001339851.1:n.*748G>C
NR_148201.2:n.1612G>C (SGSH)
NM_001352921.3:c.*785G>C (SGSH)	NP_001339850.1:n.*785G>C