Canonical Allele Identifier: CA368992400

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2856759
• ClinVar RCV Id: RCV003617526
• dbSNP Id: rs756579825
• gnomAD v2: 7-117251785-G-C
• gnomAD v4: 7-117611731-G-C
• MyVariant Identifiers: chr7:g.117251785G>C (hg19) ; chr7:g.117611731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611731G>C , CM000669.2:g.117611731G>C	GRCh38
NC_000007.13:g.117251785G>C , CM000669.1:g.117251785G>C	GRCh37
NC_000007.12:g.117039021G>C	NCBI36
NG_016465.4:g.150948G>C , LRG_663:g.150948G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3290G>C	ENSP00000497673.2:p.Arg1097Pro
ENST00000647978.2:c.*3004G>C	ENSP00000497658.1:n.*3004G>C
ENST00000649781.2:c.3107G>C	ENSP00000497203.1:p.Arg1036Pro
ENST00000685018.2:c.3290G>C	ENSP00000510194.2:p.Arg1097Pro
ENST00000687278.2:c.3290G>C	ENSP00000509593.2:p.Arg1097Pro
ENST00000699585.1:c.3290G>C	ENSP00000514456.1:p.Arg1097Pro
ENST00000699598.1:c.3290G>C	ENSP00000514467.1:p.Arg1097Pro
ENST00000699599.1:c.3290G>C	ENSP00000514468.1:p.Arg1097Pro
ENST00000699600.1:c.3290G>C	ENSP00000514469.1:p.Arg1097Pro
ENST00000699601.1:c.*1590G>C	ENSP00000514470.1:n.*1590G>C
ENST00000699602.1:c.3290G>C	ENSP00000514471.1:p.Arg1097Pro
ENST00000699604.1:c.*3114G>C	ENSP00000514472.1:n.*3114G>C
ENST00000699605.1:c.2864G>C	ENSP00000514473.1:p.Arg955Pro
ENST00000685018.1:c.38G>C	ENSP00000510194.1:p.Arg13Pro
ENST00000687278.1:c.881G>C	ENSP00000509593.1:p.Arg294Pro
ENST00000003084.11:c.3290G>C MANE Select	ENSP00000003084.6:p.Arg1097Pro
ENST00000647720.1:c.940G>C
ENST00000648260.1:c.2072G>C	ENSP00000497957.1:p.Arg691Pro
ENST00000649406.1:c.3107G>C	ENSP00000497965.1:p.Arg1036Pro
ENST00000649781.1:c.3107G>C	ENSP00000497203.1:p.Arg1036Pro
ENST00000003084.10:c.3290G>C	ENSP00000003084.6:p.Arg1097Pro
ENST00000426809.5:c.3200G>C	ENSP00000389119.1:p.Arg1067Pro
ENST00000468795.1:c.115G>C
NM_000492.3:c.3290G>C , LRG_663t1:c.3290G>C	NP_000483.3:p.Arg1097Pro
XM_011515751.1:c.3380G>C	XP_011514053.1:p.Arg1127Pro
XM_011515752.1:c.3380G>C	XP_011514054.1:p.Arg1127Pro
XM_011515753.1:c.3047G>C	XP_011514055.1:p.Arg1016Pro
XM_011515754.1:c.3047G>C	XP_011514056.1:p.Arg1016Pro
NM_000492.4:c.3290G>C MANE Select	NP_000483.3:p.Arg1097Pro