Canonical Allele Identifier: CA368974938

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1706052
• ClinVar RCV Id: RCV002284582
• gnomAD v4: 7-117642513-G-A
• MyVariant Identifiers: chr7:g.117282567G>A (hg19) ; chr7:g.117642513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642513G>A , CM000669.2:g.117642513G>A	GRCh38
NC_000007.13:g.117282567G>A , CM000669.1:g.117282567G>A	GRCh37
NC_000007.12:g.117069803G>A	NCBI36
NG_016465.4:g.181730G>A , LRG_663:g.181730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*2G>A	ENSP00000497673.2:n.*2G>A
ENST00000647978.2:c.*3507G>A	ENSP00000497658.1:n.*3507G>A
ENST00000649781.2:c.3610G>A	ENSP00000497203.1:p.Gly1204Arg
ENST00000685018.2:c.3793G>A	ENSP00000510194.2:p.Gly1265Arg
ENST00000687278.2:c.*446G>A	ENSP00000509593.2:n.*446G>A
ENST00000699585.1:c.*2G>A	ENSP00000514456.1:n.*2G>A
ENST00000699598.1:c.3793G>A	ENSP00000514467.1:p.Gly1265Arg
ENST00000699599.1:c.3793G>A	ENSP00000514468.1:p.Gly1265Arg
ENST00000699600.1:c.*454G>A	ENSP00000514469.1:n.*454G>A
ENST00000699601.1:c.*2168G>A	ENSP00000514470.1:n.*2168G>A
ENST00000699602.1:c.3787G>A	ENSP00000514471.1:p.Gly1263Arg
ENST00000699604.1:c.*3617G>A	ENSP00000514472.1:n.*3617G>A
ENST00000699605.1:c.3367G>A	ENSP00000514473.1:p.Gly1123Arg
ENST00000685018.1:c.541G>A	ENSP00000510194.1:p.Gly181Arg
ENST00000687278.1:c.1580G>A	ENSP00000509593.1:n.1580G>A
ENST00000689011.1:c.375G>A
ENST00000003084.11:c.3793G>A MANE Select	ENSP00000003084.6:p.Gly1265Arg
ENST00000647720.1:c.1243G>A
ENST00000649781.1:c.3610G>A	ENSP00000497203.1:p.Gly1204Arg
ENST00000003084.10:c.3793G>A	ENSP00000003084.6:p.Gly1265Arg
ENST00000426809.5:c.3703G>A	ENSP00000389119.1:p.Gly1235Arg
NM_000492.3:c.3793G>A , LRG_663t1:c.3793G>A	NP_000483.3:p.Gly1265Arg
XM_011515751.1:c.3883G>A	XP_011514053.1:p.Gly1295Arg
XM_011515752.1:c.3883G>A	XP_011514054.1:p.Gly1295Arg
XM_011515753.1:c.3550G>A	XP_011514055.1:p.Gly1184Arg
XM_011515754.1:c.3550G>A	XP_011514056.1:p.Gly1184Arg
NM_000492.4:c.3793G>A MANE Select	NP_000483.3:p.Gly1265Arg