Canonical Allele Identifier: CA368974607

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282532T>G (hg19) ; chr7:g.117642478T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642478T>G , CM000669.2:g.117642478T>G	GRCh38
NC_000007.13:g.117282532T>G , CM000669.1:g.117282532T>G	GRCh37
NC_000007.12:g.117069768T>G	NCBI36
NG_016465.4:g.181695T>G , LRG_663:g.181695T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3558T>G	ENSP00000497673.2:p.Phe1186Leu
ENST00000647978.2:c.*3472T>G	ENSP00000497658.1:n.*3472T>G
ENST00000649781.2:c.3575T>G	ENSP00000497203.1:p.Leu1192Trp
ENST00000685018.2:c.3758T>G	ENSP00000510194.2:p.Leu1253Trp
ENST00000687278.2:c.*411T>G	ENSP00000509593.2:n.*411T>G
ENST00000699585.1:c.3558T>G	ENSP00000514456.1:p.Phe1186Leu
ENST00000699598.1:c.3758T>G	ENSP00000514467.1:p.Leu1253Trp
ENST00000699599.1:c.3758T>G	ENSP00000514468.1:p.Leu1253Trp
ENST00000699600.1:c.*419T>G	ENSP00000514469.1:n.*419T>G
ENST00000699601.1:c.*2133T>G	ENSP00000514470.1:n.*2133T>G
ENST00000699602.1:c.3752T>G	ENSP00000514471.1:p.Leu1251Trp
ENST00000699604.1:c.*3582T>G	ENSP00000514472.1:n.*3582T>G
ENST00000699605.1:c.3332T>G	ENSP00000514473.1:p.Leu1111Trp
ENST00000685018.1:c.506T>G	ENSP00000510194.1:p.Leu169Trp
ENST00000687278.1:c.1545T>G	ENSP00000509593.1:n.1545T>G
ENST00000689011.1:c.340T>G
ENST00000003084.11:c.3758T>G MANE Select	ENSP00000003084.6:p.Leu1253Trp
ENST00000647720.1:c.1208T>G
ENST00000649781.1:c.3575T>G	ENSP00000497203.1:p.Leu1192Trp
ENST00000003084.10:c.3758T>G	ENSP00000003084.6:p.Leu1253Trp
ENST00000426809.5:c.3668T>G	ENSP00000389119.1:p.Leu1223Trp
NM_000492.3:c.3758T>G , LRG_663t1:c.3758T>G	NP_000483.3:p.Leu1253Trp
XM_011515751.1:c.3848T>G	XP_011514053.1:p.Leu1283Trp
XM_011515752.1:c.3848T>G	XP_011514054.1:p.Leu1283Trp
XM_011515753.1:c.3515T>G	XP_011514055.1:p.Leu1172Trp
XM_011515754.1:c.3515T>G	XP_011514056.1:p.Leu1172Trp
NM_000492.4:c.3758T>G MANE Select	NP_000483.3:p.Leu1253Trp