Canonical Allele Identifier: CA368975569

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282633G>C (hg19) ; chr7:g.117642579G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642579G>C , CM000669.2:g.117642579G>C	GRCh38
NC_000007.13:g.117282633G>C , CM000669.1:g.117282633G>C	GRCh37
NC_000007.12:g.117069869G>C	NCBI36
NG_016465.4:g.181796G>C , LRG_663:g.181796G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*68G>C	ENSP00000497673.2:n.*68G>C
ENST00000647978.2:c.*3573G>C	ENSP00000497658.1:n.*3573G>C
ENST00000649781.2:c.3676G>C	ENSP00000497203.1:p.Gly1226Arg
ENST00000685018.2:c.3859G>C	ENSP00000510194.2:p.Gly1287Arg
ENST00000687278.2:c.*512G>C	ENSP00000509593.2:n.*512G>C
ENST00000699585.1:c.*68G>C	ENSP00000514456.1:n.*68G>C
ENST00000699598.1:c.3859G>C	ENSP00000514467.1:p.Gly1287Arg
ENST00000699599.1:c.3859G>C	ENSP00000514468.1:p.Gly1287Arg
ENST00000699600.1:c.*520G>C	ENSP00000514469.1:n.*520G>C
ENST00000699601.1:c.*2234G>C	ENSP00000514470.1:n.*2234G>C
ENST00000699602.1:c.3853G>C	ENSP00000514471.1:p.Gly1285Arg
ENST00000699604.1:c.*3683G>C	ENSP00000514472.1:n.*3683G>C
ENST00000699605.1:c.3433G>C	ENSP00000514473.1:p.Gly1145Arg
ENST00000685018.1:c.607G>C	ENSP00000510194.1:p.Gly203Arg
ENST00000687278.1:c.1646G>C	ENSP00000509593.1:n.1646G>C
ENST00000689011.1:c.441G>C
ENST00000003084.11:c.3859G>C MANE Select	ENSP00000003084.6:p.Gly1287Arg
ENST00000647720.1:c.1309G>C
ENST00000649781.1:c.3676G>C	ENSP00000497203.1:p.Gly1226Arg
ENST00000003084.10:c.3859G>C	ENSP00000003084.6:p.Gly1287Arg
ENST00000426809.5:c.3769G>C	ENSP00000389119.1:p.Gly1257Arg
NM_000492.3:c.3859G>C , LRG_663t1:c.3859G>C	NP_000483.3:p.Gly1287Arg
XM_011515751.1:c.3949G>C	XP_011514053.1:p.Gly1317Arg
XM_011515752.1:c.3949G>C	XP_011514054.1:p.Gly1317Arg
XM_011515753.1:c.3616G>C	XP_011514055.1:p.Gly1206Arg
XM_011515754.1:c.3616G>C	XP_011514056.1:p.Gly1206Arg
NM_000492.4:c.3859G>C MANE Select	NP_000483.3:p.Gly1287Arg