Canonical Allele Identifier: CA832122552

Gene: CFTR

Linked Data

• dbSNP Id: rs1193574256
• gnomAD v3: 7-117667977-C-T
• gnomAD v4: 7-117667977-C-T
• MyVariant Identifiers: chr7:g.117308031C>T (hg19) ; chr7:g.117667977C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667977C>T , CM000669.2:g.117667977C>T	GRCh38
NC_000007.13:g.117308031C>T , CM000669.1:g.117308031C>T	GRCh37
NC_000007.12:g.117095267C>T	NCBI36
NG_016465.4:g.207194C>T , LRG_663:g.207194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1521C>T	ENSP00000497673.2:n.*1521C>T
ENST00000647978.2:c.*5026C>T	ENSP00000497658.1:n.*5026C>T
ENST00000649781.2:c.*869C>T	ENSP00000497203.1:n.*869C>T
ENST00000685018.2:c.*1525C>T	ENSP00000510194.2:n.*1525C>T
ENST00000687278.2:c.*1051+220C>T	ENSP00000509593.2:n.*1051+220C>T
ENST00000699585.1:c.*1781C>T	ENSP00000514456.1:n.*1781C>T
ENST00000699598.1:c.*454+220C>T	ENSP00000514467.1:n.*454+220C>T
ENST00000699599.1:c.*961+220C>T	ENSP00000514468.1:n.*961+220C>T
ENST00000699600.1:c.*1059+220C>T	ENSP00000514469.1:n.*1059+220C>T
ENST00000699601.1:c.*3687C>T	ENSP00000514470.1:n.*3687C>T
ENST00000699602.1:c.*869C>T	ENSP00000514471.1:n.*869C>T
ENST00000699604.1:c.*5136C>T	ENSP00000514472.1:n.*5136C>T
ENST00000699605.1:c.*869C>T	ENSP00000514473.1:n.*869C>T
ENST00000699606.1:n.4823C>T
ENST00000685018.1:c.2176C>T	ENSP00000510194.1:n.2176C>T
ENST00000687278.1:c.2185+220C>T	ENSP00000509593.1:n.2185+220C>T
ENST00000689011.1:c.2154C>T
ENST00000003084.11:c.*869C>T MANE Select	ENSP00000003084.6:n.*869C>T
ENST00000647720.1:c.2762C>T
ENST00000003084.10:c.*869C>T	ENSP00000003084.6:n.*869C>T
ENST00000600166.1:c.368+2413C>T
NM_000492.3:c.*869C>T , LRG_663t1:c.*869C>T	NP_000483.3:n.*869C>T
XM_011515751.1:c.*869C>T	XP_011514053.1:n.*869C>T
XM_011515753.1:c.*869C>T	XP_011514055.1:n.*869C>T
XM_011515754.1:c.*869C>T	XP_011514056.1:n.*869C>T
NM_000492.4:c.*869C>T MANE Select	NP_000483.3:n.*869C>T