Canonical Allele Identifier: CA368978143

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292925A>T (hg19) ; chr7:g.117652871A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652871A>T , CM000669.2:g.117652871A>T	GRCh38
NC_000007.13:g.117292925A>T , CM000669.1:g.117292925A>T	GRCh37
NC_000007.12:g.117080161A>T	NCBI36
NG_016465.4:g.192088A>T , LRG_663:g.192088A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*112A>T	ENSP00000497673.2:n.*112A>T
ENST00000647978.2:c.*3617A>T	ENSP00000497658.1:n.*3617A>T
ENST00000649781.2:c.3720A>T	ENSP00000497203.1:p.Arg1240Ser
ENST00000685018.2:c.*116A>T	ENSP00000510194.2:n.*116A>T
ENST00000687278.2:c.*556A>T	ENSP00000509593.2:n.*556A>T
ENST00000699585.1:c.*112A>T	ENSP00000514456.1:n.*112A>T
ENST00000699598.1:c.3903A>T	ENSP00000514467.1:p.Arg1301Ser
ENST00000699599.1:c.*116A>T	ENSP00000514468.1:n.*116A>T
ENST00000699600.1:c.*564A>T	ENSP00000514469.1:n.*564A>T
ENST00000699601.1:c.*2278A>T	ENSP00000514470.1:n.*2278A>T
ENST00000699602.1:c.3897A>T	ENSP00000514471.1:p.Arg1299Ser
ENST00000699604.1:c.*3727A>T	ENSP00000514472.1:n.*3727A>T
ENST00000699605.1:c.3477A>T	ENSP00000514473.1:p.Arg1159Ser
ENST00000699606.1:n.2071A>T
ENST00000685018.1:c.767A>T	ENSP00000510194.1:n.767A>T
ENST00000687278.1:c.1690A>T	ENSP00000509593.1:n.1690A>T
ENST00000689011.1:c.485A>T
ENST00000003084.11:c.3903A>T MANE Select	ENSP00000003084.6:p.Arg1301Ser
ENST00000647720.1:c.1353A>T
ENST00000649781.1:c.3720A>T	ENSP00000497203.1:p.Arg1240Ser
ENST00000003084.10:c.3903A>T	ENSP00000003084.6:p.Arg1301Ser
ENST00000426809.5:c.3813A>T	ENSP00000389119.1:p.Arg1271Ser
ENST00000600166.1:c.29A>T
NM_000492.3:c.3903A>T , LRG_663t1:c.3903A>T	NP_000483.3:p.Arg1301Ser
XM_011515751.1:c.3993A>T	XP_011514053.1:p.Arg1331Ser
XM_011515752.1:c.3993A>T	XP_011514054.1:p.Arg1331Ser
XM_011515753.1:c.3660A>T	XP_011514055.1:p.Arg1220Ser
XM_011515754.1:c.3660A>T	XP_011514056.1:p.Arg1220Ser
NM_000492.4:c.3903A>T MANE Select	NP_000483.3:p.Arg1301Ser