Canonical Allele Identifier: CA368974599

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282531T>A (hg19) ; chr7:g.117642477T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642477T>A , CM000669.2:g.117642477T>A	GRCh38
NC_000007.13:g.117282531T>A , CM000669.1:g.117282531T>A	GRCh37
NC_000007.12:g.117069767T>A	NCBI36
NG_016465.4:g.181694T>A , LRG_663:g.181694T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3557T>A	ENSP00000497673.2:p.Phe1186Tyr
ENST00000647978.2:c.*3471T>A	ENSP00000497658.1:n.*3471T>A
ENST00000649781.2:c.3574T>A	ENSP00000497203.1:p.Leu1192Met
ENST00000685018.2:c.3757T>A	ENSP00000510194.2:p.Leu1253Met
ENST00000687278.2:c.*410T>A	ENSP00000509593.2:n.*410T>A
ENST00000699585.1:c.3557T>A	ENSP00000514456.1:p.Phe1186Tyr
ENST00000699598.1:c.3757T>A	ENSP00000514467.1:p.Leu1253Met
ENST00000699599.1:c.3757T>A	ENSP00000514468.1:p.Leu1253Met
ENST00000699600.1:c.*418T>A	ENSP00000514469.1:n.*418T>A
ENST00000699601.1:c.*2132T>A	ENSP00000514470.1:n.*2132T>A
ENST00000699602.1:c.3751T>A	ENSP00000514471.1:p.Leu1251Met
ENST00000699604.1:c.*3581T>A	ENSP00000514472.1:n.*3581T>A
ENST00000699605.1:c.3331T>A	ENSP00000514473.1:p.Leu1111Met
ENST00000685018.1:c.505T>A	ENSP00000510194.1:p.Leu169Met
ENST00000687278.1:c.1544T>A	ENSP00000509593.1:n.1544T>A
ENST00000689011.1:c.339T>A
ENST00000003084.11:c.3757T>A MANE Select	ENSP00000003084.6:p.Leu1253Met
ENST00000647720.1:c.1207T>A
ENST00000649781.1:c.3574T>A	ENSP00000497203.1:p.Leu1192Met
ENST00000003084.10:c.3757T>A	ENSP00000003084.6:p.Leu1253Met
ENST00000426809.5:c.3667T>A	ENSP00000389119.1:p.Leu1223Met
NM_000492.3:c.3757T>A , LRG_663t1:c.3757T>A	NP_000483.3:p.Leu1253Met
XM_011515751.1:c.3847T>A	XP_011514053.1:p.Leu1283Met
XM_011515752.1:c.3847T>A	XP_011514054.1:p.Leu1283Met
XM_011515753.1:c.3514T>A	XP_011514055.1:p.Leu1172Met
XM_011515754.1:c.3514T>A	XP_011514056.1:p.Leu1172Met
NM_000492.4:c.3757T>A MANE Select	NP_000483.3:p.Leu1253Met