Canonical Allele Identifier: CA327264

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53796
• ClinVar RCV Id: RCV001387159
• dbSNP Id: rs397508599
• MyVariant Identifiers: chr7:g.117282504G>A (hg19) ; chr7:g.117642450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642450G>A , CM000669.2:g.117642450G>A	GRCh38
NC_000007.13:g.117282504G>A , CM000669.1:g.117282504G>A	GRCh37
NC_000007.12:g.117069740G>A	NCBI36
NG_016465.4:g.181667G>A , LRG_663:g.181667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3530G>A	ENSP00000497673.2:p.Gly1177Glu
ENST00000647978.2:c.*3444G>A	ENSP00000497658.1:n.*3444G>A
ENST00000649781.2:c.3547G>A	ENSP00000497203.1:p.Gly1183Arg
ENST00000685018.2:c.3730G>A	ENSP00000510194.2:p.Gly1244Arg
ENST00000687278.2:c.*383G>A	ENSP00000509593.2:n.*383G>A
ENST00000699585.1:c.3530G>A	ENSP00000514456.1:p.Gly1177Glu
ENST00000699598.1:c.3730G>A	ENSP00000514467.1:p.Gly1244Arg
ENST00000699599.1:c.3730G>A	ENSP00000514468.1:p.Gly1244Arg
ENST00000699600.1:c.*391G>A	ENSP00000514469.1:n.*391G>A
ENST00000699601.1:c.*2105G>A	ENSP00000514470.1:n.*2105G>A
ENST00000699602.1:c.3724G>A	ENSP00000514471.1:p.Gly1242Arg
ENST00000699604.1:c.*3554G>A	ENSP00000514472.1:n.*3554G>A
ENST00000699605.1:c.3304G>A	ENSP00000514473.1:p.Gly1102Arg
ENST00000685018.1:c.478G>A	ENSP00000510194.1:p.Gly160Arg
ENST00000687278.1:c.1517G>A	ENSP00000509593.1:n.1517G>A
ENST00000689011.1:c.312G>A
ENST00000003084.11:c.3730G>A MANE Select	ENSP00000003084.6:p.Gly1244Arg
ENST00000647720.1:c.1180G>A
ENST00000649781.1:c.3547G>A	ENSP00000497203.1:p.Gly1183Arg
ENST00000003084.10:c.3730G>A	ENSP00000003084.6:p.Gly1244Arg
ENST00000426809.5:c.3640G>A	ENSP00000389119.1:p.Gly1214Arg
NM_000492.3:c.3730G>A , LRG_663t1:c.3730G>A	NP_000483.3:p.Gly1244Arg
XM_011515751.1:c.3820G>A	XP_011514053.1:p.Gly1274Arg
XM_011515752.1:c.3820G>A	XP_011514054.1:p.Gly1274Arg
XM_011515753.1:c.3487G>A	XP_011514055.1:p.Gly1163Arg
XM_011515754.1:c.3487G>A	XP_011514056.1:p.Gly1163Arg
NM_000492.4:c.3730G>A MANE Select	NP_000483.3:p.Gly1244Arg