Canonical Allele Identifier: CA368983625

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305572T>G (hg19) ; chr7:g.117665518T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665518T>G , CM000669.2:g.117665518T>G	GRCh38
NC_000007.13:g.117305572T>G , CM000669.1:g.117305572T>G	GRCh37
NC_000007.12:g.117092808T>G	NCBI36
NG_016465.4:g.204735T>G , LRG_663:g.204735T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*405T>G	ENSP00000497673.2:n.*405T>G
ENST00000647978.2:c.*3910T>G	ENSP00000497658.1:n.*3910T>G
ENST00000649781.2:c.4013T>G	ENSP00000497203.1:p.Leu1338Arg
ENST00000685018.2:c.*409T>G	ENSP00000510194.2:n.*409T>G
ENST00000687278.2:c.*849T>G	ENSP00000509593.2:n.*849T>G
ENST00000699585.1:c.*405T>G	ENSP00000514456.1:n.*405T>G
ENST00000699598.1:c.4196T>G	ENSP00000514467.1:p.Leu1399Arg
ENST00000699599.1:c.*409T>G	ENSP00000514468.1:n.*409T>G
ENST00000699600.1:c.*857T>G	ENSP00000514469.1:n.*857T>G
ENST00000699601.1:c.*2571T>G	ENSP00000514470.1:n.*2571T>G
ENST00000699602.1:c.4190T>G	ENSP00000514471.1:p.Leu1397Arg
ENST00000699604.1:c.*4020T>G	ENSP00000514472.1:n.*4020T>G
ENST00000699605.1:c.3770T>G	ENSP00000514473.1:p.Leu1257Arg
ENST00000699606.1:n.2364T>G
ENST00000685018.1:c.1060T>G	ENSP00000510194.1:n.1060T>G
ENST00000687278.1:c.1983T>G	ENSP00000509593.1:n.1983T>G
ENST00000689011.1:c.778T>G
ENST00000003084.11:c.4196T>G MANE Select	ENSP00000003084.6:p.Leu1399Arg
ENST00000647720.1:c.1646T>G
ENST00000649781.1:c.4013T>G	ENSP00000497203.1:p.Leu1338Arg
ENST00000003084.10:c.4196T>G	ENSP00000003084.6:p.Leu1399Arg
ENST00000426809.5:c.4106T>G	ENSP00000389119.1:p.Leu1369Arg
ENST00000600166.1:c.322T>G
NM_000492.3:c.4196T>G , LRG_663t1:c.4196T>G	NP_000483.3:p.Leu1399Arg
XM_011515751.1:c.4286T>G	XP_011514053.1:p.Leu1429Arg
XM_011515752.1:c.4286T>G	XP_011514054.1:p.Leu1429Arg
XM_011515753.1:c.3953T>G	XP_011514055.1:p.Leu1318Arg
XM_011515754.1:c.3953T>G	XP_011514056.1:p.Leu1318Arg
NM_000492.4:c.4196T>G MANE Select	NP_000483.3:p.Leu1399Arg