Canonical Allele Identifier: CA368975378

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282611G>C (hg19) ; chr7:g.117642557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642557G>C , CM000669.2:g.117642557G>C	GRCh38
NC_000007.13:g.117282611G>C , CM000669.1:g.117282611G>C	GRCh37
NC_000007.12:g.117069847G>C	NCBI36
NG_016465.4:g.181774G>C , LRG_663:g.181774G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*46G>C	ENSP00000497673.2:n.*46G>C
ENST00000647978.2:c.*3551G>C	ENSP00000497658.1:n.*3551G>C
ENST00000649781.2:c.3654G>C	ENSP00000497203.1:p.Leu1218Phe
ENST00000685018.2:c.3837G>C	ENSP00000510194.2:p.Leu1279Phe
ENST00000687278.2:c.*490G>C	ENSP00000509593.2:n.*490G>C
ENST00000699585.1:c.*46G>C	ENSP00000514456.1:n.*46G>C
ENST00000699598.1:c.3837G>C	ENSP00000514467.1:p.Leu1279Phe
ENST00000699599.1:c.3837G>C	ENSP00000514468.1:p.Leu1279Phe
ENST00000699600.1:c.*498G>C	ENSP00000514469.1:n.*498G>C
ENST00000699601.1:c.*2212G>C	ENSP00000514470.1:n.*2212G>C
ENST00000699602.1:c.3831G>C	ENSP00000514471.1:p.Leu1277Phe
ENST00000699604.1:c.*3661G>C	ENSP00000514472.1:n.*3661G>C
ENST00000699605.1:c.3411G>C	ENSP00000514473.1:p.Leu1137Phe
ENST00000685018.1:c.585G>C	ENSP00000510194.1:p.Leu195Phe
ENST00000687278.1:c.1624G>C	ENSP00000509593.1:n.1624G>C
ENST00000689011.1:c.419G>C
ENST00000003084.11:c.3837G>C MANE Select	ENSP00000003084.6:p.Leu1279Phe
ENST00000647720.1:c.1287G>C
ENST00000649781.1:c.3654G>C	ENSP00000497203.1:p.Leu1218Phe
ENST00000003084.10:c.3837G>C	ENSP00000003084.6:p.Leu1279Phe
ENST00000426809.5:c.3747G>C	ENSP00000389119.1:p.Leu1249Phe
NM_000492.3:c.3837G>C , LRG_663t1:c.3837G>C	NP_000483.3:p.Leu1279Phe
XM_011515751.1:c.3927G>C	XP_011514053.1:p.Leu1309Phe
XM_011515752.1:c.3927G>C	XP_011514054.1:p.Leu1309Phe
XM_011515753.1:c.3594G>C	XP_011514055.1:p.Leu1198Phe
XM_011515754.1:c.3594G>C	XP_011514056.1:p.Leu1198Phe
NM_000492.4:c.3837G>C MANE Select	NP_000483.3:p.Leu1279Phe