Canonical Allele Identifier: CA368981359

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2453625
• ClinVar RCV Id: RCV003187760
• MyVariant Identifiers: chr7:g.117232667A>C (hg19) ; chr7:g.117592613A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592613A>C , CM000669.2:g.117592613A>C	GRCh38
NC_000007.13:g.117232667A>C , CM000669.1:g.117232667A>C	GRCh37
NC_000007.12:g.117019903A>C	NCBI36
NG_016465.4:g.131830A>C , LRG_663:g.131830A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2446A>C	ENSP00000497673.2:p.Thr816Pro
ENST00000647978.2:c.*2160A>C	ENSP00000497658.1:n.*2160A>C
ENST00000649781.2:c.2263A>C	ENSP00000497203.1:p.Thr755Pro
ENST00000685018.2:c.2446A>C	ENSP00000510194.2:p.Thr816Pro
ENST00000687278.2:c.2446A>C	ENSP00000509593.2:p.Thr816Pro
ENST00000699585.1:c.2446A>C	ENSP00000514456.1:p.Thr816Pro
ENST00000699598.1:c.2446A>C	ENSP00000514467.1:p.Thr816Pro
ENST00000699599.1:c.2446A>C	ENSP00000514468.1:p.Thr816Pro
ENST00000699600.1:c.2446A>C	ENSP00000514469.1:p.Thr816Pro
ENST00000699601.1:c.*746A>C	ENSP00000514470.1:n.*746A>C
ENST00000699602.1:c.2446A>C	ENSP00000514471.1:p.Thr816Pro
ENST00000699604.1:c.*2270A>C	ENSP00000514472.1:n.*2270A>C
ENST00000699605.1:c.2020A>C	ENSP00000514473.1:p.Thr674Pro
ENST00000687278.1:c.37A>C	ENSP00000509593.1:p.Thr13Pro
ENST00000003084.11:c.2446A>C MANE Select	ENSP00000003084.6:p.Thr816Pro
ENST00000647720.1:c.96A>C
ENST00000647978.1:c.*2160A>C	ENSP00000497658.1:n.*2160A>C
ENST00000648260.1:c.1402-10213A>C	ENSP00000497957.1:n.1402-10213A>C
ENST00000649406.1:c.2263A>C	ENSP00000497965.1:p.Thr755Pro
ENST00000649781.1:c.2263A>C	ENSP00000497203.1:p.Thr755Pro
ENST00000003084.10:c.2446A>C	ENSP00000003084.6:p.Thr816Pro
ENST00000426809.5:c.2356A>C	ENSP00000389119.1:p.Thr786Pro
NM_000492.3:c.2446A>C , LRG_663t1:c.2446A>C	NP_000483.3:p.Thr816Pro
XM_011515751.1:c.2536A>C	XP_011514053.1:p.Thr846Pro
XM_011515752.1:c.2536A>C	XP_011514054.1:p.Thr846Pro
XM_011515753.1:c.2203A>C	XP_011514055.1:p.Thr735Pro
XM_011515754.1:c.2203A>C	XP_011514056.1:p.Thr735Pro
NM_000492.4:c.2446A>C MANE Select	NP_000483.3:p.Thr816Pro