Canonical Allele Identifier: CA628019266

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs185914788
• gnomAD v2: 17-78179311-C-G
• MyVariant Identifiers: chr17:g.78179311C>G (hg19) ; chr17:g.80205512C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80205512C>G , CM000679.2:g.80205512C>G	GRCh38
NC_000017.10:g.78179311C>G , CM000679.1:g.78179311C>G	GRCh37
NC_000017.9:g.75793906C>G	NCBI36
NG_032778.1:g.40521C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000571427.2:c.2570-19C>G (CARD14)	ENSP00000516501.1:n.2570-19C>G
ENST00000703566.1:c.*406-19C>G (CARD14)	ENSP00000515382.1:n.*406-19C>G
ENST00000703567.1:c.*406-19C>G (CARD14)	ENSP00000515383.1:n.*406-19C>G
ENST00000703568.1:c.*1030-19C>G (CARD14)	ENSP00000515384.1:n.*1030-19C>G
ENST00000703569.1:n.2771-19C>G (CARD14)
ENST00000703570.1:n.1486-19C>G (CARD14)
ENST00000703571.1:n.1418-19C>G (CARD14)
ENST00000703572.1:n.454-19C>G (CARD14)
ENST00000703573.1:n.788-19C>G (CARD14)
ENST00000648509.2:c.2570-19C>G (CARD14) MANE Select	ENSP00000498071.1:n.2570-19C>G
ENST00000649277.1:n.1327-19C>G (CARD14)
ENST00000650867.1:c.*15-19C>G (CARD14)	ENSP00000498570.1:n.*15-19C>G
ENST00000651068.1:c.*929-19C>G (CARD14)	ENSP00000498274.1:n.*929-19C>G
ENST00000651672.1:c.2597-19C>G (CARD14)	ENSP00000499145.1:n.2597-19C>G
ENST00000344227.6:c.2570-19C>G (CARD14)	ENSP00000344549.2:n.2570-19C>G
ENST00000573882.5:c.2570-19C>G (CARD14)	ENSP00000458715.1:n.2570-19C>G
ENST00000575500.5:c.*1030-19C>G (CARD14)	ENSP00000460883.1:n.*1030-19C>G
NM_024110.4:c.2570-19C>G (CARD14)	NP_077015.2:n.2570-19C>G
NR_047566.1:n.2745-19C>G (CARD14)
XM_011525212.1:c.2570-19C>G (CARD14)	XP_011523514.1:n.2570-19C>G
XM_011525213.1:c.2570-19C>G (CARD14)	XP_011523515.1:n.2570-19C>G
XM_011525214.1:c.2570-19C>G (CARD14)	XP_011523516.1:n.2570-19C>G
XM_011525215.1:c.2570-19C>G (CARD14)	XP_011523517.1:n.2570-19C>G
XM_011525216.1:c.2570-19C>G (CARD14)	XP_011523518.1:n.2570-19C>G
XM_011525217.1:c.2570-19C>G (CARD14)	XP_011523519.1:n.2570-19C>G
XM_011525218.1:c.2570-19C>G (CARD14)	XP_011523520.1:n.2570-19C>G
XM_011525219.1:c.*15-19C>G (CARD14)	XP_011523521.1:n.*15-19C>G
NM_001366385.1:c.2570-19C>G (CARD14) MANE Select	NP_001353314.1:n.2570-19C>G
XM_011525218.2:c.2570-19C>G (CARD14)	XP_011523520.1:n.2570-19C>G
XM_024450934.1:c.2567-19C>G (CARD14)	XP_024306702.1:n.2567-19C>G
XM_024450935.1:c.2570-19C>G (CARD14)	XP_024306703.1:n.2570-19C>G
XR_001752586.1:n.1584G>C (SGSH)
XR_001752587.1:n.1391G>C (SGSH)
XR_001752588.1:n.1584G>C (SGSH)
XR_001752589.1:n.1584G>C (SGSH)
XR_001752590.1:n.1584G>C (SGSH)
XR_001752591.1:n.1584G>C (SGSH)
XR_001752592.1:n.1571+13G>C (SGSH)
XR_002958057.1:n.2181G>C (SGSH)
XR_002958065.1:n.2720-19C>G (CARD14)
NR_047566.2:n.2707-19C>G (CARD14)