Canonical Allele Identifier: CA832104813

Gene: CFTR

Linked Data

• dbSNP Id: rs1206679681
• gnomAD v3: 7-117591878-CAT-C
• gnomAD v4: 7-117591878-CAT-C
• MyVariant Identifiers: chr7:g.117231933_117231934del (hg19) ; chr7:g.117591879_117591880del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591881_117591882del , CM000669.2:g.117591881_117591882del	GRCh38
NC_000007.13:g.117231935_117231936del , CM000669.1:g.117231935_117231936del	GRCh37
NC_000007.12:g.117019171_117019172del	NCBI36
NG_016465.4:g.131098_131099del , LRG_663:g.131098_131099del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1767-53_1767-52del	ENSP00000497673.2:n.1767-53_1767-52del
ENST00000647978.2:c.*1481-53_*1481-52del	ENSP00000497658.1:n.*1481-53_*1481-52del
ENST00000649781.2:c.1584-53_1584-52del	ENSP00000497203.1:n.1584-53_1584-52del
ENST00000685018.2:c.1767-53_1767-52del	ENSP00000510194.2:n.1767-53_1767-52del
ENST00000687278.2:c.1767-53_1767-52del	ENSP00000509593.2:n.1767-53_1767-52del
ENST00000699585.1:c.1767-53_1767-52del	ENSP00000514456.1:n.1767-53_1767-52del
ENST00000699598.1:c.1767-53_1767-52del	ENSP00000514467.1:n.1767-53_1767-52del
ENST00000699599.1:c.1767-53_1767-52del	ENSP00000514468.1:n.1767-53_1767-52del
ENST00000699600.1:c.1767-53_1767-52del	ENSP00000514469.1:n.1767-53_1767-52del
ENST00000699601.1:c.*67-53_*67-52del	ENSP00000514470.1:n.*67-53_*67-52del
ENST00000699602.1:c.1767-53_1767-52del	ENSP00000514471.1:n.1767-53_1767-52del
ENST00000699604.1:c.*1591-53_*1591-52del	ENSP00000514472.1:n.*1591-53_*1591-52del
ENST00000699605.1:c.1341-53_1341-52del	ENSP00000514473.1:n.1341-53_1341-52del
ENST00000003084.11:c.1767-53_1767-52del MANE Select	ENSP00000003084.6:n.1767-53_1767-52del
ENST00000647978.1:c.*1481-53_*1481-52del	ENSP00000497658.1:n.*1481-53_*1481-52del
ENST00000648260.1:c.1402-10945_1402-10944del	ENSP00000497957.1:n.1402-10945_1402-10944...
ENST00000649406.1:c.1584-53_1584-52del	ENSP00000497965.1:n.1584-53_1584-52del
ENST00000649781.1:c.1584-53_1584-52del	ENSP00000497203.1:n.1584-53_1584-52del
ENST00000003084.10:c.1767-53_1767-52del	ENSP00000003084.6:n.1767-53_1767-52del
ENST00000426809.5:c.1677-53_1677-52del	ENSP00000389119.1:n.1677-53_1677-52del
NM_000492.3:c.1767-53_1767-52del , LRG_663t1:c.1767-53_1767-52del	NP_000483.3:n.1767-53_1767-52del
XM_011515751.1:c.1857-53_1857-52del	XP_011514053.1:n.1857-53_1857-52del
XM_011515752.1:c.1857-53_1857-52del	XP_011514054.1:n.1857-53_1857-52del
XM_011515753.1:c.1524-53_1524-52del	XP_011514055.1:n.1524-53_1524-52del
XM_011515754.1:c.1524-53_1524-52del	XP_011514056.1:n.1524-53_1524-52del
NM_000492.4:c.1767-53_1767-52del MANE Select	NP_000483.3:n.1767-53_1767-52del