Canonical Allele Identifier: CA368975580

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282634G>C (hg19) ; chr7:g.117642580G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642580G>C , CM000669.2:g.117642580G>C	GRCh38
NC_000007.13:g.117282634G>C , CM000669.1:g.117282634G>C	GRCh37
NC_000007.12:g.117069870G>C	NCBI36
NG_016465.4:g.181797G>C , LRG_663:g.181797G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*69G>C	ENSP00000497673.2:n.*69G>C
ENST00000647978.2:c.*3574G>C	ENSP00000497658.1:n.*3574G>C
ENST00000649781.2:c.3677G>C	ENSP00000497203.1:p.Gly1226Ala
ENST00000685018.2:c.3860G>C	ENSP00000510194.2:p.Gly1287Ala
ENST00000687278.2:c.*513G>C	ENSP00000509593.2:n.*513G>C
ENST00000699585.1:c.*69G>C	ENSP00000514456.1:n.*69G>C
ENST00000699598.1:c.3860G>C	ENSP00000514467.1:p.Gly1287Ala
ENST00000699599.1:c.3860G>C	ENSP00000514468.1:p.Gly1287Ala
ENST00000699600.1:c.*521G>C	ENSP00000514469.1:n.*521G>C
ENST00000699601.1:c.*2235G>C	ENSP00000514470.1:n.*2235G>C
ENST00000699602.1:c.3854G>C	ENSP00000514471.1:p.Gly1285Ala
ENST00000699604.1:c.*3684G>C	ENSP00000514472.1:n.*3684G>C
ENST00000699605.1:c.3434G>C	ENSP00000514473.1:p.Gly1145Ala
ENST00000685018.1:c.608G>C	ENSP00000510194.1:p.Gly203Ala
ENST00000687278.1:c.1647G>C	ENSP00000509593.1:n.1647G>C
ENST00000689011.1:c.442G>C
ENST00000003084.11:c.3860G>C MANE Select	ENSP00000003084.6:p.Gly1287Ala
ENST00000647720.1:c.1310G>C
ENST00000649781.1:c.3677G>C	ENSP00000497203.1:p.Gly1226Ala
ENST00000003084.10:c.3860G>C	ENSP00000003084.6:p.Gly1287Ala
ENST00000426809.5:c.3770G>C	ENSP00000389119.1:p.Gly1257Ala
NM_000492.3:c.3860G>C , LRG_663t1:c.3860G>C	NP_000483.3:p.Gly1287Ala
XM_011515751.1:c.3950G>C	XP_011514053.1:p.Gly1317Ala
XM_011515752.1:c.3950G>C	XP_011514054.1:p.Gly1317Ala
XM_011515753.1:c.3617G>C	XP_011514055.1:p.Gly1206Ala
XM_011515754.1:c.3617G>C	XP_011514056.1:p.Gly1206Ala
NM_000492.4:c.3860G>C MANE Select	NP_000483.3:p.Gly1287Ala