Canonical Allele Identifier: CA832118303

Gene: CFTR

Linked Data

• dbSNP Id: rs1444841259
• MyVariant Identifiers: chr7:g.117292769_117292800del (hg19) ; chr7:g.117652715_117652746del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652716_117652747del , CM000669.2:g.117652716_117652747del	GRCh38
NC_000007.13:g.117292770_117292801del , CM000669.1:g.117292770_117292801del	GRCh37
NC_000007.12:g.117080006_117080037del	NCBI36
NG_016465.4:g.191933_191964del , LRG_663:g.191933_191964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*83-126_*83-95del	ENSP00000497673.2:n.*83-126_*83-95del
ENST00000647978.2:c.*3588-126_*3588-95del	ENSP00000497658.1:n.*3588-126_*3588-95del
ENST00000649781.2:c.3691-126_3691-95del	ENSP00000497203.1:n.3691-126_3691-95del
ENST00000685018.2:c.*87-126_*87-95del	ENSP00000510194.2:n.*87-126_*87-95del
ENST00000687278.2:c.*527-126_*527-95del	ENSP00000509593.2:n.*527-126_*527-95del
ENST00000699585.1:c.*83-126_*83-95del	ENSP00000514456.1:n.*83-126_*83-95del
ENST00000699598.1:c.3874-126_3874-95del	ENSP00000514467.1:n.3874-126_3874-95del
ENST00000699599.1:c.*87-126_*87-95del	ENSP00000514468.1:n.*87-126_*87-95del
ENST00000699600.1:c.*535-126_*535-95del	ENSP00000514469.1:n.*535-126_*535-95del
ENST00000699601.1:c.*2249-126_*2249-95del	ENSP00000514470.1:n.*2249-126_*2249-95del
ENST00000699602.1:c.3868-126_3868-95del	ENSP00000514471.1:n.3868-126_3868-95del
ENST00000699604.1:c.*3698-126_*3698-95del	ENSP00000514472.1:n.*3698-126_*3698-95del
ENST00000699605.1:c.3448-126_3448-95del	ENSP00000514473.1:n.3448-126_3448-95del
ENST00000699606.1:n.1916_1947del
ENST00000685018.1:c.738-126_738-95del	ENSP00000510194.1:n.738-126_738-95del
ENST00000687278.1:c.1661-126_1661-95del	ENSP00000509593.1:n.1661-126_1661-95del
ENST00000689011.1:c.456-126_456-95del
ENST00000003084.11:c.3874-126_3874-95del MANE Select	ENSP00000003084.6:n.3874-126_3874-95del
ENST00000647720.1:c.1324-126_1324-95del
ENST00000649781.1:c.3691-126_3691-95del	ENSP00000497203.1:n.3691-126_3691-95del
ENST00000003084.10:c.3874-126_3874-95del	ENSP00000003084.6:n.3874-126_3874-95del
ENST00000426809.5:c.3784-126_3784-95del	ENSP00000389119.1:n.3784-126_3784-95del
NM_000492.3:c.3874-126_3874-95del , LRG_663t1:c.3874-126_3874-95del	NP_000483.3:n.3874-126_3874-95del
XM_011515751.1:c.3964-126_3964-95del	XP_011514053.1:n.3964-126_3964-95del
XM_011515752.1:c.3964-126_3964-95del	XP_011514054.1:n.3964-126_3964-95del
XM_011515753.1:c.3631-126_3631-95del	XP_011514055.1:n.3631-126_3631-95del
XM_011515754.1:c.3631-126_3631-95del	XP_011514056.1:n.3631-126_3631-95del
NM_000492.4:c.3874-126_3874-95del MANE Select	NP_000483.3:n.3874-126_3874-95del