Canonical Allele Identifier: CA457228003

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117243754C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603700C>A , CM000669.2:g.117603700C>A	GRCh38
NC_000007.13:g.117243754C>A , CM000669.1:g.117243754C>A	GRCh37
NC_000007.12:g.117030990C>A	NCBI36
NG_016465.4:g.142917C>A , LRG_663:g.142917C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2826C>A	ENSP00000497673.2:p.Ile942=
ENST00000647978.2:c.*2540C>A	ENSP00000497658.1:n.*2540C>A
ENST00000649781.2:c.2643C>A	ENSP00000497203.1:p.Ile881=
ENST00000685018.2:c.2826C>A	ENSP00000510194.2:p.Ile942=
ENST00000687278.2:c.2826C>A	ENSP00000509593.2:p.Ile942=
ENST00000699585.1:c.2826C>A	ENSP00000514456.1:p.Ile942=
ENST00000699598.1:c.2826C>A	ENSP00000514467.1:p.Ile942=
ENST00000699599.1:c.2826C>A	ENSP00000514468.1:p.Ile942=
ENST00000699600.1:c.2826C>A	ENSP00000514469.1:p.Ile942=
ENST00000699601.1:c.*1126C>A	ENSP00000514470.1:n.*1126C>A
ENST00000699602.1:c.2826C>A	ENSP00000514471.1:p.Ile942=
ENST00000699604.1:c.*2650C>A	ENSP00000514472.1:n.*2650C>A
ENST00000699605.1:c.2400C>A	ENSP00000514473.1:p.Ile800=
ENST00000687278.1:c.417C>A	ENSP00000509593.1:p.Ile139=
ENST00000003084.11:c.2826C>A MANE Select	ENSP00000003084.6:p.Ile942=
ENST00000647720.1:c.476C>A
ENST00000648260.1:c.1608C>A	ENSP00000497957.1:p.Ile536=
ENST00000649406.1:c.2643C>A	ENSP00000497965.1:p.Ile881=
ENST00000649781.1:c.2643C>A	ENSP00000497203.1:p.Ile881=
ENST00000003084.10:c.2826C>A	ENSP00000003084.6:p.Ile942=
ENST00000426809.5:c.2736C>A	ENSP00000389119.1:p.Ile912=
NM_000492.3:c.2826C>A , LRG_663t1:c.2826C>A	NP_000483.3:p.Ile942=
XM_011515751.1:c.2916C>A	XP_011514053.1:p.Ile972=
XM_011515752.1:c.2916C>A	XP_011514054.1:p.Ile972=
XM_011515753.1:c.2583C>A	XP_011514055.1:p.Ile861=
XM_011515754.1:c.2583C>A	XP_011514056.1:p.Ile861=
NM_000492.4:c.2826C>A MANE Select	NP_000483.3:p.Ile942=