Canonical Allele Identifier: CA1737408479

Gene: CFTR

Linked Data

• dbSNP Id: rs1793416589

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668133T>C , CM000669.2:g.117668133T>C	GRCh38
NC_000007.13:g.117308187T>C , CM000669.1:g.117308187T>C	GRCh37
NC_000007.12:g.117095423T>C	NCBI36
NG_016465.4:g.207350T>C , LRG_663:g.207350T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*1677T>C	ENSP00000497673.2:n.*1677T>C
ENST00000647978.2:c.*5182T>C	ENSP00000497658.1:n.*5182T>C
ENST00000649781.2:c.*1025T>C	ENSP00000497203.1:n.*1025T>C
ENST00000685018.2:c.*1681T>C	ENSP00000510194.2:n.*1681T>C
ENST00000687278.2:c.*1052-346T>C	ENSP00000509593.2:n.*1052-346T>C
ENST00000699585.1:c.*1937T>C	ENSP00000514456.1:n.*1937T>C
ENST00000699598.1:c.*455-346T>C	ENSP00000514467.1:n.*455-346T>C
ENST00000699599.1:c.*962-346T>C	ENSP00000514468.1:n.*962-346T>C
ENST00000699600.1:c.*1060-346T>C	ENSP00000514469.1:n.*1060-346T>C
ENST00000699601.1:c.*3843T>C	ENSP00000514470.1:n.*3843T>C
ENST00000699602.1:c.*1025T>C	ENSP00000514471.1:n.*1025T>C
ENST00000699604.1:c.*5292T>C	ENSP00000514472.1:n.*5292T>C
ENST00000699605.1:c.*1025T>C	ENSP00000514473.1:n.*1025T>C
ENST00000699606.1:n.4979T>C
ENST00000685018.1:c.2332T>C	ENSP00000510194.1:n.2332T>C
ENST00000687278.1:c.2186-346T>C	ENSP00000509593.1:n.2186-346T>C
ENST00000689011.1:c.2310T>C
ENST00000003084.11:c.*1025T>C MANE Select	ENSP00000003084.6:n.*1025T>C
ENST00000647720.1:c.2918T>C
ENST00000003084.10:c.*1025T>C	ENSP00000003084.6:n.*1025T>C
ENST00000600166.1:c.368+2569T>C
NM_000492.3:c.*1025T>C , LRG_663t1:c.*1025T>C	NP_000483.3:n.*1025T>C
XM_011515751.1:c.*1025T>C	XP_011514053.1:n.*1025T>C
XM_011515753.1:c.*1025T>C	XP_011514055.1:n.*1025T>C
XM_011515754.1:c.*1025T>C	XP_011514056.1:n.*1025T>C
NM_000492.4:c.*1025T>C MANE Select	NP_000483.3:n.*1025T>C