Canonical Allele Identifier: CA368974418

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282496G>C (hg19) ; chr7:g.117642442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642442G>C , CM000669.2:g.117642442G>C	GRCh38
NC_000007.13:g.117282496G>C , CM000669.1:g.117282496G>C	GRCh37
NC_000007.12:g.117069732G>C	NCBI36
NG_016465.4:g.181659G>C , LRG_663:g.181659G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3522G>C	ENSP00000497673.2:p.Gly1174=
ENST00000647978.2:c.*3436G>C	ENSP00000497658.1:n.*3436G>C
ENST00000649781.2:c.3539G>C	ENSP00000497203.1:p.Gly1180Ala
ENST00000685018.2:c.3722G>C	ENSP00000510194.2:p.Gly1241Ala
ENST00000687278.2:c.*375G>C	ENSP00000509593.2:n.*375G>C
ENST00000699585.1:c.3522G>C	ENSP00000514456.1:p.Gly1174=
ENST00000699598.1:c.3722G>C	ENSP00000514467.1:p.Gly1241Ala
ENST00000699599.1:c.3722G>C	ENSP00000514468.1:p.Gly1241Ala
ENST00000699600.1:c.*383G>C	ENSP00000514469.1:n.*383G>C
ENST00000699601.1:c.*2097G>C	ENSP00000514470.1:n.*2097G>C
ENST00000699602.1:c.3716G>C	ENSP00000514471.1:p.Gly1239Ala
ENST00000699604.1:c.*3546G>C	ENSP00000514472.1:n.*3546G>C
ENST00000699605.1:c.3296G>C	ENSP00000514473.1:p.Gly1099Ala
ENST00000685018.1:c.470G>C	ENSP00000510194.1:p.Gly157Ala
ENST00000687278.1:c.1509G>C	ENSP00000509593.1:n.1509G>C
ENST00000689011.1:c.304G>C
ENST00000003084.11:c.3722G>C MANE Select	ENSP00000003084.6:p.Gly1241Ala
ENST00000647720.1:c.1172G>C
ENST00000649781.1:c.3539G>C	ENSP00000497203.1:p.Gly1180Ala
ENST00000003084.10:c.3722G>C	ENSP00000003084.6:p.Gly1241Ala
ENST00000426809.5:c.3632G>C	ENSP00000389119.1:p.Gly1211Ala
NM_000492.3:c.3722G>C , LRG_663t1:c.3722G>C	NP_000483.3:p.Gly1241Ala
XM_011515751.1:c.3812G>C	XP_011514053.1:p.Gly1271Ala
XM_011515752.1:c.3812G>C	XP_011514054.1:p.Gly1271Ala
XM_011515753.1:c.3479G>C	XP_011514055.1:p.Gly1160Ala
XM_011515754.1:c.3479G>C	XP_011514056.1:p.Gly1160Ala
NM_000492.4:c.3722G>C MANE Select	NP_000483.3:p.Gly1241Ala