Canonical Allele Identifier: CA368974541

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282524G>C (hg19) ; chr7:g.117642470G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642470G>C , CM000669.2:g.117642470G>C	GRCh38
NC_000007.13:g.117282524G>C , CM000669.1:g.117282524G>C	GRCh37
NC_000007.12:g.117069760G>C	NCBI36
NG_016465.4:g.181687G>C , LRG_663:g.181687G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3550G>C	ENSP00000497673.2:p.Glu1184Gln
ENST00000647978.2:c.*3464G>C	ENSP00000497658.1:n.*3464G>C
ENST00000649781.2:c.3567G>C	ENSP00000497203.1:p.Lys1189Asn
ENST00000685018.2:c.3750G>C	ENSP00000510194.2:p.Lys1250Asn
ENST00000687278.2:c.*403G>C	ENSP00000509593.2:n.*403G>C
ENST00000699585.1:c.3550G>C	ENSP00000514456.1:p.Glu1184Gln
ENST00000699598.1:c.3750G>C	ENSP00000514467.1:p.Lys1250Asn
ENST00000699599.1:c.3750G>C	ENSP00000514468.1:p.Lys1250Asn
ENST00000699600.1:c.*411G>C	ENSP00000514469.1:n.*411G>C
ENST00000699601.1:c.*2125G>C	ENSP00000514470.1:n.*2125G>C
ENST00000699602.1:c.3744G>C	ENSP00000514471.1:p.Lys1248Asn
ENST00000699604.1:c.*3574G>C	ENSP00000514472.1:n.*3574G>C
ENST00000699605.1:c.3324G>C	ENSP00000514473.1:p.Lys1108Asn
ENST00000685018.1:c.498G>C	ENSP00000510194.1:p.Lys166Asn
ENST00000687278.1:c.1537G>C	ENSP00000509593.1:n.1537G>C
ENST00000689011.1:c.332G>C
ENST00000003084.11:c.3750G>C MANE Select	ENSP00000003084.6:p.Lys1250Asn
ENST00000647720.1:c.1200G>C
ENST00000649781.1:c.3567G>C	ENSP00000497203.1:p.Lys1189Asn
ENST00000003084.10:c.3750G>C	ENSP00000003084.6:p.Lys1250Asn
ENST00000426809.5:c.3660G>C	ENSP00000389119.1:p.Lys1220Asn
NM_000492.3:c.3750G>C , LRG_663t1:c.3750G>C	NP_000483.3:p.Lys1250Asn
XM_011515751.1:c.3840G>C	XP_011514053.1:p.Lys1280Asn
XM_011515752.1:c.3840G>C	XP_011514054.1:p.Lys1280Asn
XM_011515753.1:c.3507G>C	XP_011514055.1:p.Lys1169Asn
XM_011515754.1:c.3507G>C	XP_011514056.1:p.Lys1169Asn
NM_000492.4:c.3750G>C MANE Select	NP_000483.3:p.Lys1250Asn