Canonical Allele Identifier: CA368991954

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117251673A>C (hg19) ; chr7:g.117611619A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611619A>C , CM000669.2:g.117611619A>C	GRCh38
NC_000007.13:g.117251673A>C , CM000669.1:g.117251673A>C	GRCh37
NC_000007.12:g.117038909A>C	NCBI36
NG_016465.4:g.150836A>C , LRG_663:g.150836A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3178A>C	ENSP00000497673.2:p.Lys1060Gln
ENST00000647978.2:c.*2892A>C	ENSP00000497658.1:n.*2892A>C
ENST00000649781.2:c.2995A>C	ENSP00000497203.1:p.Lys999Gln
ENST00000685018.2:c.3178A>C	ENSP00000510194.2:p.Lys1060Gln
ENST00000687278.2:c.3178A>C	ENSP00000509593.2:p.Lys1060Gln
ENST00000699585.1:c.3178A>C	ENSP00000514456.1:p.Lys1060Gln
ENST00000699598.1:c.3178A>C	ENSP00000514467.1:p.Lys1060Gln
ENST00000699599.1:c.3178A>C	ENSP00000514468.1:p.Lys1060Gln
ENST00000699600.1:c.3178A>C	ENSP00000514469.1:p.Lys1060Gln
ENST00000699601.1:c.*1478A>C	ENSP00000514470.1:n.*1478A>C
ENST00000699602.1:c.3178A>C	ENSP00000514471.1:p.Lys1060Gln
ENST00000699604.1:c.*3002A>C	ENSP00000514472.1:n.*3002A>C
ENST00000699605.1:c.2752A>C	ENSP00000514473.1:p.Lys918Gln
ENST00000687278.1:c.769A>C	ENSP00000509593.1:p.Lys257Gln
ENST00000003084.11:c.3178A>C MANE Select	ENSP00000003084.6:p.Lys1060Gln
ENST00000647720.1:c.828A>C
ENST00000648260.1:c.1960A>C	ENSP00000497957.1:p.Lys654Gln
ENST00000649406.1:c.2995A>C	ENSP00000497965.1:p.Lys999Gln
ENST00000649781.1:c.2995A>C	ENSP00000497203.1:p.Lys999Gln
ENST00000003084.10:c.3178A>C	ENSP00000003084.6:p.Lys1060Gln
ENST00000426809.5:c.3088A>C	ENSP00000389119.1:p.Lys1030Gln
ENST00000468795.1:c.3A>C
NM_000492.3:c.3178A>C , LRG_663t1:c.3178A>C	NP_000483.3:p.Lys1060Gln
XM_011515751.1:c.3268A>C	XP_011514053.1:p.Lys1090Gln
XM_011515752.1:c.3268A>C	XP_011514054.1:p.Lys1090Gln
XM_011515753.1:c.2935A>C	XP_011514055.1:p.Lys979Gln
XM_011515754.1:c.2935A>C	XP_011514056.1:p.Lys979Gln
NM_000492.4:c.3178A>C MANE Select	NP_000483.3:p.Lys1060Gln