Canonical Allele Identifier: CA368981244

Gene: CFTR

Linked Data

• ClinVar Variation Id: 811333
• ClinVar RCV Id: RCV001001123 ; RCV001056339
• dbSNP Id: rs377447726
• gnomAD v4: 7-117592595-A-T
• MyVariant Identifiers: chr7:g.117232649A>T (hg19) ; chr7:g.117592595A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592595A>T , CM000669.2:g.117592595A>T	GRCh38
NC_000007.13:g.117232649A>T , CM000669.1:g.117232649A>T	GRCh37
NC_000007.12:g.117019885A>T	NCBI36
NG_016465.4:g.131812A>T , LRG_663:g.131812A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2428A>T	ENSP00000497673.2:p.Arg810Ter
ENST00000647978.2:c.*2142A>T	ENSP00000497658.1:n.*2142A>T
ENST00000649781.2:c.2245A>T	ENSP00000497203.1:p.Arg749Ter
ENST00000685018.2:c.2428A>T	ENSP00000510194.2:p.Arg810Ter
ENST00000687278.2:c.2428A>T	ENSP00000509593.2:p.Arg810Ter
ENST00000699585.1:c.2428A>T	ENSP00000514456.1:p.Arg810Ter
ENST00000699598.1:c.2428A>T	ENSP00000514467.1:p.Arg810Ter
ENST00000699599.1:c.2428A>T	ENSP00000514468.1:p.Arg810Ter
ENST00000699600.1:c.2428A>T	ENSP00000514469.1:p.Arg810Ter
ENST00000699601.1:c.*728A>T	ENSP00000514470.1:n.*728A>T
ENST00000699602.1:c.2428A>T	ENSP00000514471.1:p.Arg810Ter
ENST00000699604.1:c.*2252A>T	ENSP00000514472.1:n.*2252A>T
ENST00000699605.1:c.2002A>T	ENSP00000514473.1:p.Arg668Ter
ENST00000687278.1:c.19A>T	ENSP00000509593.1:p.Arg7Ter
ENST00000003084.11:c.2428A>T MANE Select	ENSP00000003084.6:p.Arg810Ter
ENST00000647720.1:c.78A>T
ENST00000647978.1:c.*2142A>T	ENSP00000497658.1:n.*2142A>T
ENST00000648260.1:c.1402-10231A>T	ENSP00000497957.1:n.1402-10231A>T
ENST00000649406.1:c.2245A>T	ENSP00000497965.1:p.Arg749Ter
ENST00000649781.1:c.2245A>T	ENSP00000497203.1:p.Arg749Ter
ENST00000003084.10:c.2428A>T	ENSP00000003084.6:p.Arg810Ter
ENST00000426809.5:c.2338A>T	ENSP00000389119.1:p.Arg780Ter
NM_000492.3:c.2428A>T , LRG_663t1:c.2428A>T	NP_000483.3:p.Arg810Ter
XM_011515751.1:c.2518A>T	XP_011514053.1:p.Arg840Ter
XM_011515752.1:c.2518A>T	XP_011514054.1:p.Arg840Ter
XM_011515753.1:c.2185A>T	XP_011514055.1:p.Arg729Ter
XM_011515754.1:c.2185A>T	XP_011514056.1:p.Arg729Ter
NM_000492.4:c.2428A>T MANE Select	NP_000483.3:p.Arg810Ter