Canonical Allele Identifier: CA368975117

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282585G>C (hg19) ; chr7:g.117642531G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642531G>C , CM000669.2:g.117642531G>C	GRCh38
NC_000007.13:g.117282585G>C , CM000669.1:g.117282585G>C	GRCh37
NC_000007.12:g.117069821G>C	NCBI36
NG_016465.4:g.181748G>C , LRG_663:g.181748G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*20G>C	ENSP00000497673.2:n.*20G>C
ENST00000647978.2:c.*3525G>C	ENSP00000497658.1:n.*3525G>C
ENST00000649781.2:c.3628G>C	ENSP00000497203.1:p.Gly1210Arg
ENST00000685018.2:c.3811G>C	ENSP00000510194.2:p.Gly1271Arg
ENST00000687278.2:c.*464G>C	ENSP00000509593.2:n.*464G>C
ENST00000699585.1:c.*20G>C	ENSP00000514456.1:n.*20G>C
ENST00000699598.1:c.3811G>C	ENSP00000514467.1:p.Gly1271Arg
ENST00000699599.1:c.3811G>C	ENSP00000514468.1:p.Gly1271Arg
ENST00000699600.1:c.*472G>C	ENSP00000514469.1:n.*472G>C
ENST00000699601.1:c.*2186G>C	ENSP00000514470.1:n.*2186G>C
ENST00000699602.1:c.3805G>C	ENSP00000514471.1:p.Gly1269Arg
ENST00000699604.1:c.*3635G>C	ENSP00000514472.1:n.*3635G>C
ENST00000699605.1:c.3385G>C	ENSP00000514473.1:p.Gly1129Arg
ENST00000685018.1:c.559G>C	ENSP00000510194.1:p.Gly187Arg
ENST00000687278.1:c.1598G>C	ENSP00000509593.1:n.1598G>C
ENST00000689011.1:c.393G>C
ENST00000003084.11:c.3811G>C MANE Select	ENSP00000003084.6:p.Gly1271Arg
ENST00000647720.1:c.1261G>C
ENST00000649781.1:c.3628G>C	ENSP00000497203.1:p.Gly1210Arg
ENST00000003084.10:c.3811G>C	ENSP00000003084.6:p.Gly1271Arg
ENST00000426809.5:c.3721G>C	ENSP00000389119.1:p.Gly1241Arg
NM_000492.3:c.3811G>C , LRG_663t1:c.3811G>C	NP_000483.3:p.Gly1271Arg
XM_011515751.1:c.3901G>C	XP_011514053.1:p.Gly1301Arg
XM_011515752.1:c.3901G>C	XP_011514054.1:p.Gly1301Arg
XM_011515753.1:c.3568G>C	XP_011514055.1:p.Gly1190Arg
XM_011515754.1:c.3568G>C	XP_011514056.1:p.Gly1190Arg
NM_000492.4:c.3811G>C MANE Select	NP_000483.3:p.Gly1271Arg