Canonical Allele Identifier: CA368974496

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2759709
• ClinVar RCV Id: RCV003507196
• MyVariant Identifiers: chr7:g.117282514G>A (hg19) ; chr7:g.117642460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642460G>A , CM000669.2:g.117642460G>A	GRCh38
NC_000007.13:g.117282514G>A , CM000669.1:g.117282514G>A	GRCh37
NC_000007.12:g.117069750G>A	NCBI36
NG_016465.4:g.181677G>A , LRG_663:g.181677G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3540G>A	ENSP00000497673.2:p.Trp1180Ter
ENST00000647978.2:c.*3454G>A	ENSP00000497658.1:n.*3454G>A
ENST00000649781.2:c.3557G>A	ENSP00000497203.1:p.Gly1186Glu
ENST00000685018.2:c.3740G>A	ENSP00000510194.2:p.Gly1247Glu
ENST00000687278.2:c.*393G>A	ENSP00000509593.2:n.*393G>A
ENST00000699585.1:c.3540G>A	ENSP00000514456.1:p.Trp1180Ter
ENST00000699598.1:c.3740G>A	ENSP00000514467.1:p.Gly1247Glu
ENST00000699599.1:c.3740G>A	ENSP00000514468.1:p.Gly1247Glu
ENST00000699600.1:c.*401G>A	ENSP00000514469.1:n.*401G>A
ENST00000699601.1:c.*2115G>A	ENSP00000514470.1:n.*2115G>A
ENST00000699602.1:c.3734G>A	ENSP00000514471.1:p.Gly1245Glu
ENST00000699604.1:c.*3564G>A	ENSP00000514472.1:n.*3564G>A
ENST00000699605.1:c.3314G>A	ENSP00000514473.1:p.Gly1105Glu
ENST00000685018.1:c.488G>A	ENSP00000510194.1:p.Gly163Glu
ENST00000687278.1:c.1527G>A	ENSP00000509593.1:n.1527G>A
ENST00000689011.1:c.322G>A
ENST00000003084.11:c.3740G>A MANE Select	ENSP00000003084.6:p.Gly1247Glu
ENST00000647720.1:c.1190G>A
ENST00000649781.1:c.3557G>A	ENSP00000497203.1:p.Gly1186Glu
ENST00000003084.10:c.3740G>A	ENSP00000003084.6:p.Gly1247Glu
ENST00000426809.5:c.3650G>A	ENSP00000389119.1:p.Gly1217Glu
NM_000492.3:c.3740G>A , LRG_663t1:c.3740G>A	NP_000483.3:p.Gly1247Glu
XM_011515751.1:c.3830G>A	XP_011514053.1:p.Gly1277Glu
XM_011515752.1:c.3830G>A	XP_011514054.1:p.Gly1277Glu
XM_011515753.1:c.3497G>A	XP_011514055.1:p.Gly1166Glu
XM_011515754.1:c.3497G>A	XP_011514056.1:p.Gly1166Glu
NM_000492.4:c.3740G>A MANE Select	NP_000483.3:p.Gly1247Glu