Canonical Allele Identifier: CA2684648922

Gene: CFTR

Linked Data

• gnomAD v4: 7-117652719-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652719T>C , CM000669.2:g.117652719T>C	GRCh38
NC_000007.13:g.117292773T>C , CM000669.1:g.117292773T>C	GRCh37
NC_000007.12:g.117080009T>C	NCBI36
NG_016465.4:g.191936T>C , LRG_663:g.191936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*83-123T>C	ENSP00000497673.2:n.*83-123T>C
ENST00000647978.2:c.*3588-123T>C	ENSP00000497658.1:n.*3588-123T>C
ENST00000649781.2:c.3691-123T>C	ENSP00000497203.1:n.3691-123T>C
ENST00000685018.2:c.*87-123T>C	ENSP00000510194.2:n.*87-123T>C
ENST00000687278.2:c.*527-123T>C	ENSP00000509593.2:n.*527-123T>C
ENST00000699585.1:c.*83-123T>C	ENSP00000514456.1:n.*83-123T>C
ENST00000699598.1:c.3874-123T>C	ENSP00000514467.1:n.3874-123T>C
ENST00000699599.1:c.*87-123T>C	ENSP00000514468.1:n.*87-123T>C
ENST00000699600.1:c.*535-123T>C	ENSP00000514469.1:n.*535-123T>C
ENST00000699601.1:c.*2249-123T>C	ENSP00000514470.1:n.*2249-123T>C
ENST00000699602.1:c.3868-123T>C	ENSP00000514471.1:n.3868-123T>C
ENST00000699604.1:c.*3698-123T>C	ENSP00000514472.1:n.*3698-123T>C
ENST00000699605.1:c.3448-123T>C	ENSP00000514473.1:n.3448-123T>C
ENST00000699606.1:n.1919T>C
ENST00000685018.1:c.738-123T>C	ENSP00000510194.1:n.738-123T>C
ENST00000687278.1:c.1661-123T>C	ENSP00000509593.1:n.1661-123T>C
ENST00000689011.1:c.456-123T>C
ENST00000003084.11:c.3874-123T>C MANE Select	ENSP00000003084.6:n.3874-123T>C
ENST00000647720.1:c.1324-123T>C
ENST00000649781.1:c.3691-123T>C	ENSP00000497203.1:n.3691-123T>C
ENST00000003084.10:c.3874-123T>C	ENSP00000003084.6:n.3874-123T>C
ENST00000426809.5:c.3784-123T>C	ENSP00000389119.1:n.3784-123T>C
NM_000492.3:c.3874-123T>C , LRG_663t1:c.3874-123T>C	NP_000483.3:n.3874-123T>C
XM_011515751.1:c.3964-123T>C	XP_011514053.1:n.3964-123T>C
XM_011515752.1:c.3964-123T>C	XP_011514054.1:n.3964-123T>C
XM_011515753.1:c.3631-123T>C	XP_011514055.1:n.3631-123T>C
XM_011515754.1:c.3631-123T>C	XP_011514056.1:n.3631-123T>C
NM_000492.4:c.3874-123T>C MANE Select	NP_000483.3:n.3874-123T>C