Canonical Allele Identifier: CA457229507

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1640157
• ClinVar RCV Id: RCV002150873
• dbSNP Id: rs2116081223
• MyVariant Identifiers: chr7:g.117250698G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610644G>A , CM000669.2:g.117610644G>A	GRCh38
NC_000007.13:g.117250698G>A , CM000669.1:g.117250698G>A	GRCh37
NC_000007.12:g.117037934G>A	NCBI36
NG_016465.4:g.149861G>A , LRG_663:g.149861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3114G>A	ENSP00000497673.2:p.Gln1038=
ENST00000647978.2:c.*2828G>A	ENSP00000497658.1:n.*2828G>A
ENST00000649781.2:c.2931G>A	ENSP00000497203.1:p.Gln977=
ENST00000685018.2:c.3114G>A	ENSP00000510194.2:p.Gln1038=
ENST00000687278.2:c.3114G>A	ENSP00000509593.2:p.Gln1038=
ENST00000699585.1:c.3114G>A	ENSP00000514456.1:p.Gln1038=
ENST00000699598.1:c.3114G>A	ENSP00000514467.1:p.Gln1038=
ENST00000699599.1:c.3114G>A	ENSP00000514468.1:p.Gln1038=
ENST00000699600.1:c.3114G>A	ENSP00000514469.1:p.Gln1038=
ENST00000699601.1:c.*1414G>A	ENSP00000514470.1:n.*1414G>A
ENST00000699602.1:c.3114G>A	ENSP00000514471.1:p.Gln1038=
ENST00000699604.1:c.*2938G>A	ENSP00000514472.1:n.*2938G>A
ENST00000699605.1:c.2688G>A	ENSP00000514473.1:p.Gln896=
ENST00000687278.1:c.705G>A	ENSP00000509593.1:p.Gln235=
ENST00000003084.11:c.3114G>A MANE Select	ENSP00000003084.6:p.Gln1038=
ENST00000647720.1:c.764G>A
ENST00000648260.1:c.1896G>A	ENSP00000497957.1:p.Gln632=
ENST00000649406.1:c.2931G>A	ENSP00000497965.1:p.Gln977=
ENST00000649781.1:c.2931G>A	ENSP00000497203.1:p.Gln977=
ENST00000003084.10:c.3114G>A	ENSP00000003084.6:p.Gln1038=
ENST00000426809.5:c.3024G>A	ENSP00000389119.1:p.Gln1008=
NM_000492.3:c.3114G>A , LRG_663t1:c.3114G>A	NP_000483.3:p.Gln1038=
XM_011515751.1:c.3204G>A	XP_011514053.1:p.Gln1068=
XM_011515752.1:c.3204G>A	XP_011514054.1:p.Gln1068=
XM_011515753.1:c.2871G>A	XP_011514055.1:p.Gln957=
XM_011515754.1:c.2871G>A	XP_011514056.1:p.Gln957=
NM_000492.4:c.3114G>A MANE Select	NP_000483.3:p.Gln1038=