Canonical Allele Identifier: CA457229411

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117250647A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610593A>C , CM000669.2:g.117610593A>C	GRCh38
NC_000007.13:g.117250647A>C , CM000669.1:g.117250647A>C	GRCh37
NC_000007.12:g.117037883A>C	NCBI36
NG_016465.4:g.149810A>C , LRG_663:g.149810A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3063A>C	ENSP00000497673.2:p.Pro1021=
ENST00000647978.2:c.*2777A>C	ENSP00000497658.1:n.*2777A>C
ENST00000649781.2:c.2880A>C	ENSP00000497203.1:p.Pro960=
ENST00000685018.2:c.3063A>C	ENSP00000510194.2:p.Pro1021=
ENST00000687278.2:c.3063A>C	ENSP00000509593.2:p.Pro1021=
ENST00000699585.1:c.3063A>C	ENSP00000514456.1:p.Pro1021=
ENST00000699598.1:c.3063A>C	ENSP00000514467.1:p.Pro1021=
ENST00000699599.1:c.3063A>C	ENSP00000514468.1:p.Pro1021=
ENST00000699600.1:c.3063A>C	ENSP00000514469.1:p.Pro1021=
ENST00000699601.1:c.*1363A>C	ENSP00000514470.1:n.*1363A>C
ENST00000699602.1:c.3063A>C	ENSP00000514471.1:p.Pro1021=
ENST00000699604.1:c.*2887A>C	ENSP00000514472.1:n.*2887A>C
ENST00000699605.1:c.2637A>C	ENSP00000514473.1:p.Pro879=
ENST00000687278.1:c.654A>C	ENSP00000509593.1:p.Pro218=
ENST00000003084.11:c.3063A>C MANE Select	ENSP00000003084.6:p.Pro1021=
ENST00000647720.1:c.713A>C
ENST00000648260.1:c.1845A>C	ENSP00000497957.1:p.Pro615=
ENST00000649406.1:c.2880A>C	ENSP00000497965.1:p.Pro960=
ENST00000649781.1:c.2880A>C	ENSP00000497203.1:p.Pro960=
ENST00000003084.10:c.3063A>C	ENSP00000003084.6:p.Pro1021=
ENST00000426809.5:c.2973A>C	ENSP00000389119.1:p.Pro991=
NM_000492.3:c.3063A>C , LRG_663t1:c.3063A>C	NP_000483.3:p.Pro1021=
XM_011515751.1:c.3153A>C	XP_011514053.1:p.Pro1051=
XM_011515752.1:c.3153A>C	XP_011514054.1:p.Pro1051=
XM_011515753.1:c.2820A>C	XP_011514055.1:p.Pro940=
XM_011515754.1:c.2820A>C	XP_011514056.1:p.Pro940=
NM_000492.4:c.3063A>C MANE Select	NP_000483.3:p.Pro1021=