Canonical Allele Identifier: CA2684621631

Gene: CFTR

Linked Data

• gnomAD v4: 7-117667970-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667970C>A , CM000669.2:g.117667970C>A	GRCh38
NC_000007.13:g.117308024C>A , CM000669.1:g.117308024C>A	GRCh37
NC_000007.12:g.117095260C>A	NCBI36
NG_016465.4:g.207187C>A , LRG_663:g.207187C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*1514C>A	ENSP00000497673.2:n.*1514C>A
ENST00000647978.2:c.*5019C>A	ENSP00000497658.1:n.*5019C>A
ENST00000649781.2:c.*862C>A	ENSP00000497203.1:n.*862C>A
ENST00000685018.2:c.*1518C>A	ENSP00000510194.2:n.*1518C>A
ENST00000687278.2:c.*1051+213C>A	ENSP00000509593.2:n.*1051+213C>A
ENST00000699585.1:c.*1774C>A	ENSP00000514456.1:n.*1774C>A
ENST00000699598.1:c.*454+213C>A	ENSP00000514467.1:n.*454+213C>A
ENST00000699599.1:c.*961+213C>A	ENSP00000514468.1:n.*961+213C>A
ENST00000699600.1:c.*1059+213C>A	ENSP00000514469.1:n.*1059+213C>A
ENST00000699601.1:c.*3680C>A	ENSP00000514470.1:n.*3680C>A
ENST00000699602.1:c.*862C>A	ENSP00000514471.1:n.*862C>A
ENST00000699604.1:c.*5129C>A	ENSP00000514472.1:n.*5129C>A
ENST00000699605.1:c.*862C>A	ENSP00000514473.1:n.*862C>A
ENST00000699606.1:n.4816C>A
ENST00000685018.1:c.2169C>A	ENSP00000510194.1:n.2169C>A
ENST00000687278.1:c.2185+213C>A	ENSP00000509593.1:n.2185+213C>A
ENST00000689011.1:c.2147C>A
ENST00000003084.11:c.*862C>A MANE Select	ENSP00000003084.6:n.*862C>A
ENST00000647720.1:c.2755C>A
ENST00000003084.10:c.*862C>A	ENSP00000003084.6:n.*862C>A
ENST00000600166.1:c.368+2406C>A
NM_000492.3:c.*862C>A , LRG_663t1:c.*862C>A	NP_000483.3:n.*862C>A
XM_011515751.1:c.*862C>A	XP_011514053.1:n.*862C>A
XM_011515753.1:c.*862C>A	XP_011514055.1:n.*862C>A
XM_011515754.1:c.*862C>A	XP_011514056.1:n.*862C>A
NM_000492.4:c.*862C>A MANE Select	NP_000483.3:n.*862C>A