Canonical Allele Identifier: CA368982104

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304779A>C (hg19) ; chr7:g.117664725A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664725A>C , CM000669.2:g.117664725A>C	GRCh38
NC_000007.13:g.117304779A>C , CM000669.1:g.117304779A>C	GRCh37
NC_000007.12:g.117092015A>C	NCBI36
NG_016465.4:g.203942A>C , LRG_663:g.203942A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*210A>C	ENSP00000497673.2:n.*210A>C
ENST00000647978.2:c.*3715A>C	ENSP00000497658.1:n.*3715A>C
ENST00000649781.2:c.3818A>C	ENSP00000497203.1:p.Lys1273Thr
ENST00000685018.2:c.*214A>C	ENSP00000510194.2:n.*214A>C
ENST00000687278.2:c.*654A>C	ENSP00000509593.2:n.*654A>C
ENST00000699585.1:c.*210A>C	ENSP00000514456.1:n.*210A>C
ENST00000699598.1:c.4001A>C	ENSP00000514467.1:p.Lys1334Thr
ENST00000699599.1:c.*214A>C	ENSP00000514468.1:n.*214A>C
ENST00000699600.1:c.*662A>C	ENSP00000514469.1:n.*662A>C
ENST00000699601.1:c.*2376A>C	ENSP00000514470.1:n.*2376A>C
ENST00000699602.1:c.3995A>C	ENSP00000514471.1:p.Lys1332Thr
ENST00000699604.1:c.*3825A>C	ENSP00000514472.1:n.*3825A>C
ENST00000699605.1:c.3575A>C	ENSP00000514473.1:p.Lys1192Thr
ENST00000699606.1:n.2169A>C
ENST00000685018.1:c.865A>C	ENSP00000510194.1:n.865A>C
ENST00000687278.1:c.1788A>C	ENSP00000509593.1:n.1788A>C
ENST00000689011.1:c.583A>C
ENST00000003084.11:c.4001A>C MANE Select	ENSP00000003084.6:p.Lys1334Thr
ENST00000647720.1:c.1451A>C
ENST00000649781.1:c.3818A>C	ENSP00000497203.1:p.Lys1273Thr
ENST00000003084.10:c.4001A>C	ENSP00000003084.6:p.Lys1334Thr
ENST00000426809.5:c.3911A>C	ENSP00000389119.1:p.Lys1304Thr
ENST00000600166.1:c.127A>C
NM_000492.3:c.4001A>C , LRG_663t1:c.4001A>C	NP_000483.3:p.Lys1334Thr
XM_011515751.1:c.4091A>C	XP_011514053.1:p.Lys1364Thr
XM_011515752.1:c.4091A>C	XP_011514054.1:p.Lys1364Thr
XM_011515753.1:c.3758A>C	XP_011514055.1:p.Lys1253Thr
XM_011515754.1:c.3758A>C	XP_011514056.1:p.Lys1253Thr
NM_000492.4:c.4001A>C MANE Select	NP_000483.3:p.Lys1334Thr