Canonical Allele Identifier: CA368974523

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282520G>C (hg19) ; chr7:g.117642466G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642466G>C , CM000669.2:g.117642466G>C	GRCh38
NC_000007.13:g.117282520G>C , CM000669.1:g.117282520G>C	GRCh37
NC_000007.12:g.117069756G>C	NCBI36
NG_016465.4:g.181683G>C , LRG_663:g.181683G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3546G>C	ENSP00000497673.2:p.Arg1182Ser
ENST00000647978.2:c.*3460G>C	ENSP00000497658.1:n.*3460G>C
ENST00000649781.2:c.3563G>C	ENSP00000497203.1:p.Gly1188Ala
ENST00000685018.2:c.3746G>C	ENSP00000510194.2:p.Gly1249Ala
ENST00000687278.2:c.*399G>C	ENSP00000509593.2:n.*399G>C
ENST00000699585.1:c.3546G>C	ENSP00000514456.1:p.Arg1182Ser
ENST00000699598.1:c.3746G>C	ENSP00000514467.1:p.Gly1249Ala
ENST00000699599.1:c.3746G>C	ENSP00000514468.1:p.Gly1249Ala
ENST00000699600.1:c.*407G>C	ENSP00000514469.1:n.*407G>C
ENST00000699601.1:c.*2121G>C	ENSP00000514470.1:n.*2121G>C
ENST00000699602.1:c.3740G>C	ENSP00000514471.1:p.Gly1247Ala
ENST00000699604.1:c.*3570G>C	ENSP00000514472.1:n.*3570G>C
ENST00000699605.1:c.3320G>C	ENSP00000514473.1:p.Gly1107Ala
ENST00000685018.1:c.494G>C	ENSP00000510194.1:p.Gly165Ala
ENST00000687278.1:c.1533G>C	ENSP00000509593.1:n.1533G>C
ENST00000689011.1:c.328G>C
ENST00000003084.11:c.3746G>C MANE Select	ENSP00000003084.6:p.Gly1249Ala
ENST00000647720.1:c.1196G>C
ENST00000649781.1:c.3563G>C	ENSP00000497203.1:p.Gly1188Ala
ENST00000003084.10:c.3746G>C	ENSP00000003084.6:p.Gly1249Ala
ENST00000426809.5:c.3656G>C	ENSP00000389119.1:p.Gly1219Ala
NM_000492.3:c.3746G>C , LRG_663t1:c.3746G>C	NP_000483.3:p.Gly1249Ala
XM_011515751.1:c.3836G>C	XP_011514053.1:p.Gly1279Ala
XM_011515752.1:c.3836G>C	XP_011514054.1:p.Gly1279Ala
XM_011515753.1:c.3503G>C	XP_011514055.1:p.Gly1168Ala
XM_011515754.1:c.3503G>C	XP_011514056.1:p.Gly1168Ala
NM_000492.4:c.3746G>C MANE Select	NP_000483.3:p.Gly1249Ala