Canonical Allele Identifier: CA368975144

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282588G>T (hg19) ; chr7:g.117642534G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642534G>T , CM000669.2:g.117642534G>T	GRCh38
NC_000007.13:g.117282588G>T , CM000669.1:g.117282588G>T	GRCh37
NC_000007.12:g.117069824G>T	NCBI36
NG_016465.4:g.181751G>T , LRG_663:g.181751G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*23G>T	ENSP00000497673.2:n.*23G>T
ENST00000647978.2:c.*3528G>T	ENSP00000497658.1:n.*3528G>T
ENST00000649781.2:c.3631G>T	ENSP00000497203.1:p.Val1211Leu
ENST00000685018.2:c.3814G>T	ENSP00000510194.2:p.Val1272Leu
ENST00000687278.2:c.*467G>T	ENSP00000509593.2:n.*467G>T
ENST00000699585.1:c.*23G>T	ENSP00000514456.1:n.*23G>T
ENST00000699598.1:c.3814G>T	ENSP00000514467.1:p.Val1272Leu
ENST00000699599.1:c.3814G>T	ENSP00000514468.1:p.Val1272Leu
ENST00000699600.1:c.*475G>T	ENSP00000514469.1:n.*475G>T
ENST00000699601.1:c.*2189G>T	ENSP00000514470.1:n.*2189G>T
ENST00000699602.1:c.3808G>T	ENSP00000514471.1:p.Val1270Leu
ENST00000699604.1:c.*3638G>T	ENSP00000514472.1:n.*3638G>T
ENST00000699605.1:c.3388G>T	ENSP00000514473.1:p.Val1130Leu
ENST00000685018.1:c.562G>T	ENSP00000510194.1:p.Val188Leu
ENST00000687278.1:c.1601G>T	ENSP00000509593.1:n.1601G>T
ENST00000689011.1:c.396G>T
ENST00000003084.11:c.3814G>T MANE Select	ENSP00000003084.6:p.Val1272Leu
ENST00000647720.1:c.1264G>T
ENST00000649781.1:c.3631G>T	ENSP00000497203.1:p.Val1211Leu
ENST00000003084.10:c.3814G>T	ENSP00000003084.6:p.Val1272Leu
ENST00000426809.5:c.3724G>T	ENSP00000389119.1:p.Val1242Leu
NM_000492.3:c.3814G>T , LRG_663t1:c.3814G>T	NP_000483.3:p.Val1272Leu
XM_011515751.1:c.3904G>T	XP_011514053.1:p.Val1302Leu
XM_011515752.1:c.3904G>T	XP_011514054.1:p.Val1302Leu
XM_011515753.1:c.3571G>T	XP_011514055.1:p.Val1191Leu
XM_011515754.1:c.3571G>T	XP_011514056.1:p.Val1191Leu
NM_000492.4:c.3814G>T MANE Select	NP_000483.3:p.Val1272Leu