Canonical Allele Identifier: CA368975480

Gene: CFTR

Linked Data

• dbSNP Id: rs77902683
• MyVariant Identifiers: chr7:g.117282622G>C (hg19) ; chr7:g.117642568G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642568G>C , CM000669.2:g.117642568G>C	GRCh38
NC_000007.13:g.117282622G>C , CM000669.1:g.117282622G>C	GRCh37
NC_000007.12:g.117069858G>C	NCBI36
NG_016465.4:g.181785G>C , LRG_663:g.181785G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*57G>C	ENSP00000497673.2:n.*57G>C
ENST00000647978.2:c.*3562G>C	ENSP00000497658.1:n.*3562G>C
ENST00000649781.2:c.3665G>C	ENSP00000497203.1:p.Arg1222Thr
ENST00000685018.2:c.3848G>C	ENSP00000510194.2:p.Arg1283Thr
ENST00000687278.2:c.*501G>C	ENSP00000509593.2:n.*501G>C
ENST00000699585.1:c.*57G>C	ENSP00000514456.1:n.*57G>C
ENST00000699598.1:c.3848G>C	ENSP00000514467.1:p.Arg1283Thr
ENST00000699599.1:c.3848G>C	ENSP00000514468.1:p.Arg1283Thr
ENST00000699600.1:c.*509G>C	ENSP00000514469.1:n.*509G>C
ENST00000699601.1:c.*2223G>C	ENSP00000514470.1:n.*2223G>C
ENST00000699602.1:c.3842G>C	ENSP00000514471.1:p.Arg1281Thr
ENST00000699604.1:c.*3672G>C	ENSP00000514472.1:n.*3672G>C
ENST00000699605.1:c.3422G>C	ENSP00000514473.1:p.Arg1141Thr
ENST00000685018.1:c.596G>C	ENSP00000510194.1:p.Arg199Thr
ENST00000687278.1:c.1635G>C	ENSP00000509593.1:n.1635G>C
ENST00000689011.1:c.430G>C
ENST00000003084.11:c.3848G>C MANE Select	ENSP00000003084.6:p.Arg1283Thr
ENST00000647720.1:c.1298G>C
ENST00000649781.1:c.3665G>C	ENSP00000497203.1:p.Arg1222Thr
ENST00000003084.10:c.3848G>C	ENSP00000003084.6:p.Arg1283Thr
ENST00000426809.5:c.3758G>C	ENSP00000389119.1:p.Arg1253Thr
NM_000492.3:c.3848G>C , LRG_663t1:c.3848G>C	NP_000483.3:p.Arg1283Thr
XM_011515751.1:c.3938G>C	XP_011514053.1:p.Arg1313Thr
XM_011515752.1:c.3938G>C	XP_011514054.1:p.Arg1313Thr
XM_011515753.1:c.3605G>C	XP_011514055.1:p.Arg1202Thr
XM_011515754.1:c.3605G>C	XP_011514056.1:p.Arg1202Thr
NM_000492.4:c.3848G>C MANE Select	NP_000483.3:p.Arg1283Thr