Canonical Allele Identifier: CA368974728

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282546T>G (hg19) ; chr7:g.117642492T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642492T>G , CM000669.2:g.117642492T>G	GRCh38
NC_000007.13:g.117282546T>G , CM000669.1:g.117282546T>G	GRCh37
NC_000007.12:g.117069782T>G	NCBI36
NG_016465.4:g.181709T>G , LRG_663:g.181709T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3572T>G	ENSP00000497673.2:p.Phe1191Cys
ENST00000647978.2:c.*3486T>G	ENSP00000497658.1:n.*3486T>G
ENST00000649781.2:c.3589T>G	ENSP00000497203.1:p.Leu1197Val
ENST00000685018.2:c.3772T>G	ENSP00000510194.2:p.Leu1258Val
ENST00000687278.2:c.*425T>G	ENSP00000509593.2:n.*425T>G
ENST00000699585.1:c.3572T>G	ENSP00000514456.1:p.Phe1191Cys
ENST00000699598.1:c.3772T>G	ENSP00000514467.1:p.Leu1258Val
ENST00000699599.1:c.3772T>G	ENSP00000514468.1:p.Leu1258Val
ENST00000699600.1:c.*433T>G	ENSP00000514469.1:n.*433T>G
ENST00000699601.1:c.*2147T>G	ENSP00000514470.1:n.*2147T>G
ENST00000699602.1:c.3766T>G	ENSP00000514471.1:p.Leu1256Val
ENST00000699604.1:c.*3596T>G	ENSP00000514472.1:n.*3596T>G
ENST00000699605.1:c.3346T>G	ENSP00000514473.1:p.Leu1116Val
ENST00000685018.1:c.520T>G	ENSP00000510194.1:p.Leu174Val
ENST00000687278.1:c.1559T>G	ENSP00000509593.1:n.1559T>G
ENST00000689011.1:c.354T>G
ENST00000003084.11:c.3772T>G MANE Select	ENSP00000003084.6:p.Leu1258Val
ENST00000647720.1:c.1222T>G
ENST00000649781.1:c.3589T>G	ENSP00000497203.1:p.Leu1197Val
ENST00000003084.10:c.3772T>G	ENSP00000003084.6:p.Leu1258Val
ENST00000426809.5:c.3682T>G	ENSP00000389119.1:p.Leu1228Val
NM_000492.3:c.3772T>G , LRG_663t1:c.3772T>G	NP_000483.3:p.Leu1258Val
XM_011515751.1:c.3862T>G	XP_011514053.1:p.Leu1288Val
XM_011515752.1:c.3862T>G	XP_011514054.1:p.Leu1288Val
XM_011515753.1:c.3529T>G	XP_011514055.1:p.Leu1177Val
XM_011515754.1:c.3529T>G	XP_011514056.1:p.Leu1177Val
NM_000492.4:c.3772T>G MANE Select	NP_000483.3:p.Leu1258Val