Canonical Allele Identifier: CA368997342

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267759A>C (hg19) ; chr7:g.117627705A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627705A>C , CM000669.2:g.117627705A>C	GRCh38
NC_000007.13:g.117267759A>C , CM000669.1:g.117267759A>C	GRCh37
NC_000007.12:g.117054995A>C	NCBI36
NG_016465.4:g.166922A>C , LRG_663:g.166922A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+135A>C	ENSP00000497673.2:n.3517+135A>C
ENST00000647978.2:c.*3366A>C	ENSP00000497658.1:n.*3366A>C
ENST00000649781.2:c.3469A>C	ENSP00000497203.1:p.Lys1157Gln
ENST00000685018.2:c.3652A>C	ENSP00000510194.2:p.Lys1218Gln
ENST00000687278.2:c.*305A>C	ENSP00000509593.2:n.*305A>C
ENST00000699585.1:c.3517+135A>C	ENSP00000514456.1:n.3517+135A>C
ENST00000699598.1:c.3652A>C	ENSP00000514467.1:p.Lys1218Gln
ENST00000699599.1:c.3652A>C	ENSP00000514468.1:p.Lys1218Gln
ENST00000699600.1:c.*313A>C	ENSP00000514469.1:n.*313A>C
ENST00000699601.1:c.*2027A>C	ENSP00000514470.1:n.*2027A>C
ENST00000699602.1:c.3646A>C	ENSP00000514471.1:p.Lys1216Gln
ENST00000699604.1:c.*3476A>C	ENSP00000514472.1:n.*3476A>C
ENST00000699605.1:c.3226A>C	ENSP00000514473.1:p.Lys1076Gln
ENST00000685018.1:c.400A>C	ENSP00000510194.1:p.Lys134Gln
ENST00000687278.1:c.1439A>C	ENSP00000509593.1:n.1439A>C
ENST00000689011.1:c.234A>C
ENST00000003084.11:c.3652A>C MANE Select	ENSP00000003084.6:p.Lys1218Gln
ENST00000647720.1:c.1167+135A>C
ENST00000648260.1:c.2434A>C	ENSP00000497957.1:p.Lys812Gln
ENST00000649406.1:c.3469A>C	ENSP00000497965.1:p.Lys1157Gln
ENST00000649781.1:c.3469A>C	ENSP00000497203.1:p.Lys1157Gln
ENST00000003084.10:c.3652A>C	ENSP00000003084.6:p.Lys1218Gln
ENST00000426809.5:c.3562A>C	ENSP00000389119.1:p.Lys1188Gln
ENST00000468795.1:c.477A>C
NM_000492.3:c.3652A>C , LRG_663t1:c.3652A>C	NP_000483.3:p.Lys1218Gln
XM_011515751.1:c.3742A>C	XP_011514053.1:p.Lys1248Gln
XM_011515752.1:c.3742A>C	XP_011514054.1:p.Lys1248Gln
XM_011515753.1:c.3409A>C	XP_011514055.1:p.Lys1137Gln
XM_011515754.1:c.3409A>C	XP_011514056.1:p.Lys1137Gln
NM_000492.4:c.3652A>C MANE Select	NP_000483.3:p.Lys1218Gln