Canonical Allele Identifier: CA1737408435

Gene: CFTR

Linked Data

• dbSNP Id: rs1793411652
• gnomAD v3: 7-117667962-C-T
• gnomAD v4: 7-117667962-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667962C>T , CM000669.2:g.117667962C>T	GRCh38
NC_000007.13:g.117308016C>T , CM000669.1:g.117308016C>T	GRCh37
NC_000007.12:g.117095252C>T	NCBI36
NG_016465.4:g.207179C>T , LRG_663:g.207179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1506C>T	ENSP00000497673.2:n.*1506C>T
ENST00000647978.2:c.*5011C>T	ENSP00000497658.1:n.*5011C>T
ENST00000649781.2:c.*854C>T	ENSP00000497203.1:n.*854C>T
ENST00000685018.2:c.*1510C>T	ENSP00000510194.2:n.*1510C>T
ENST00000687278.2:c.*1051+205C>T	ENSP00000509593.2:n.*1051+205C>T
ENST00000699585.1:c.*1766C>T	ENSP00000514456.1:n.*1766C>T
ENST00000699598.1:c.*454+205C>T	ENSP00000514467.1:n.*454+205C>T
ENST00000699599.1:c.*961+205C>T	ENSP00000514468.1:n.*961+205C>T
ENST00000699600.1:c.*1059+205C>T	ENSP00000514469.1:n.*1059+205C>T
ENST00000699601.1:c.*3672C>T	ENSP00000514470.1:n.*3672C>T
ENST00000699602.1:c.*854C>T	ENSP00000514471.1:n.*854C>T
ENST00000699604.1:c.*5121C>T	ENSP00000514472.1:n.*5121C>T
ENST00000699605.1:c.*854C>T	ENSP00000514473.1:n.*854C>T
ENST00000699606.1:n.4808C>T
ENST00000685018.1:c.2161C>T	ENSP00000510194.1:n.2161C>T
ENST00000687278.1:c.2185+205C>T	ENSP00000509593.1:n.2185+205C>T
ENST00000689011.1:c.2139C>T
ENST00000003084.11:c.*854C>T MANE Select	ENSP00000003084.6:n.*854C>T
ENST00000647720.1:c.2747C>T
ENST00000003084.10:c.*854C>T	ENSP00000003084.6:n.*854C>T
ENST00000600166.1:c.368+2398C>T
NM_000492.3:c.*854C>T , LRG_663t1:c.*854C>T	NP_000483.3:n.*854C>T
XM_011515751.1:c.*854C>T	XP_011514053.1:n.*854C>T
XM_011515753.1:c.*854C>T	XP_011514055.1:n.*854C>T
XM_011515754.1:c.*854C>T	XP_011514056.1:n.*854C>T
NM_000492.4:c.*854C>T MANE Select	NP_000483.3:n.*854C>T