Canonical Allele Identifier: CA832118317

Gene: CFTR

Linked Data

• dbSNP Id: rs1050097166
• gnomAD v3: 7-117652729-T-C
• gnomAD v4: 7-117652729-T-C
• MyVariant Identifiers: chr7:g.117292783T>C (hg19) ; chr7:g.117652729T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652729T>C , CM000669.2:g.117652729T>C	GRCh38
NC_000007.13:g.117292783T>C , CM000669.1:g.117292783T>C	GRCh37
NC_000007.12:g.117080019T>C	NCBI36
NG_016465.4:g.191946T>C , LRG_663:g.191946T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*83-113T>C	ENSP00000497673.2:n.*83-113T>C
ENST00000647978.2:c.*3588-113T>C	ENSP00000497658.1:n.*3588-113T>C
ENST00000649781.2:c.3691-113T>C	ENSP00000497203.1:n.3691-113T>C
ENST00000685018.2:c.*87-113T>C	ENSP00000510194.2:n.*87-113T>C
ENST00000687278.2:c.*527-113T>C	ENSP00000509593.2:n.*527-113T>C
ENST00000699585.1:c.*83-113T>C	ENSP00000514456.1:n.*83-113T>C
ENST00000699598.1:c.3874-113T>C	ENSP00000514467.1:n.3874-113T>C
ENST00000699599.1:c.*87-113T>C	ENSP00000514468.1:n.*87-113T>C
ENST00000699600.1:c.*535-113T>C	ENSP00000514469.1:n.*535-113T>C
ENST00000699601.1:c.*2249-113T>C	ENSP00000514470.1:n.*2249-113T>C
ENST00000699602.1:c.3868-113T>C	ENSP00000514471.1:n.3868-113T>C
ENST00000699604.1:c.*3698-113T>C	ENSP00000514472.1:n.*3698-113T>C
ENST00000699605.1:c.3448-113T>C	ENSP00000514473.1:n.3448-113T>C
ENST00000699606.1:n.1929T>C
ENST00000685018.1:c.738-113T>C	ENSP00000510194.1:n.738-113T>C
ENST00000687278.1:c.1661-113T>C	ENSP00000509593.1:n.1661-113T>C
ENST00000689011.1:c.456-113T>C
ENST00000003084.11:c.3874-113T>C MANE Select	ENSP00000003084.6:n.3874-113T>C
ENST00000647720.1:c.1324-113T>C
ENST00000649781.1:c.3691-113T>C	ENSP00000497203.1:n.3691-113T>C
ENST00000003084.10:c.3874-113T>C	ENSP00000003084.6:n.3874-113T>C
ENST00000426809.5:c.3784-113T>C	ENSP00000389119.1:n.3784-113T>C
NM_000492.3:c.3874-113T>C , LRG_663t1:c.3874-113T>C	NP_000483.3:n.3874-113T>C
XM_011515751.1:c.3964-113T>C	XP_011514053.1:n.3964-113T>C
XM_011515752.1:c.3964-113T>C	XP_011514054.1:n.3964-113T>C
XM_011515753.1:c.3631-113T>C	XP_011514055.1:n.3631-113T>C
XM_011515754.1:c.3631-113T>C	XP_011514056.1:n.3631-113T>C
NM_000492.4:c.3874-113T>C MANE Select	NP_000483.3:n.3874-113T>C