Canonical Allele Identifier: CA2684588414

Gene: CFTR

Linked Data

• gnomAD v4: 7-117611502-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611502T>C , CM000669.2:g.117611502T>C	GRCh38
NC_000007.13:g.117251556T>C , CM000669.1:g.117251556T>C	GRCh37
NC_000007.12:g.117038792T>C	NCBI36
NG_016465.4:g.150719T>C , LRG_663:g.150719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3140-79T>C	ENSP00000497673.2:n.3140-79T>C
ENST00000647978.2:c.*2854-79T>C	ENSP00000497658.1:n.*2854-79T>C
ENST00000649781.2:c.2957-79T>C	ENSP00000497203.1:n.2957-79T>C
ENST00000685018.2:c.3140-79T>C	ENSP00000510194.2:n.3140-79T>C
ENST00000687278.2:c.3140-79T>C	ENSP00000509593.2:n.3140-79T>C
ENST00000699585.1:c.3140-79T>C	ENSP00000514456.1:n.3140-79T>C
ENST00000699598.1:c.3140-79T>C	ENSP00000514467.1:n.3140-79T>C
ENST00000699599.1:c.3140-79T>C	ENSP00000514468.1:n.3140-79T>C
ENST00000699600.1:c.3140-79T>C	ENSP00000514469.1:n.3140-79T>C
ENST00000699601.1:c.*1440-79T>C	ENSP00000514470.1:n.*1440-79T>C
ENST00000699602.1:c.3140-79T>C	ENSP00000514471.1:n.3140-79T>C
ENST00000699604.1:c.*2964-79T>C	ENSP00000514472.1:n.*2964-79T>C
ENST00000699605.1:c.2714-79T>C	ENSP00000514473.1:n.2714-79T>C
ENST00000687278.1:c.731-79T>C	ENSP00000509593.1:n.731-79T>C
ENST00000003084.11:c.3140-79T>C MANE Select	ENSP00000003084.6:n.3140-79T>C
ENST00000647720.1:c.790-79T>C
ENST00000648260.1:c.1922-79T>C	ENSP00000497957.1:n.1922-79T>C
ENST00000649406.1:c.2957-79T>C	ENSP00000497965.1:n.2957-79T>C
ENST00000649781.1:c.2957-79T>C	ENSP00000497203.1:n.2957-79T>C
ENST00000003084.10:c.3140-79T>C	ENSP00000003084.6:n.3140-79T>C
ENST00000426809.5:c.3050-79T>C	ENSP00000389119.1:n.3050-79T>C
NM_000492.3:c.3140-79T>C , LRG_663t1:c.3140-79T>C	NP_000483.3:n.3140-79T>C
XM_011515751.1:c.3230-79T>C	XP_011514053.1:n.3230-79T>C
XM_011515752.1:c.3230-79T>C	XP_011514054.1:n.3230-79T>C
XM_011515753.1:c.2897-79T>C	XP_011514055.1:n.2897-79T>C
XM_011515754.1:c.2897-79T>C	XP_011514056.1:n.2897-79T>C
NM_000492.4:c.3140-79T>C MANE Select	NP_000483.3:n.3140-79T>C