Canonical Allele Identifier: CA832121184

Gene: CFTR

Linked Data

• dbSNP Id: rs1332074371
• gnomAD v3: 7-117614317-G-GTACC
• gnomAD v4: 7-117614317-G-GTACC
• MyVariant Identifiers: chr7:g.117254371_117254372insTACC (hg19) ; chr7:g.117614317_117614318insTACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614322_117614325dup , CM000669.2:g.117614322_117614325dup	GRCh38
NC_000007.13:g.117254376_117254379dup , CM000669.1:g.117254376_117254379dup	GRCh37
NC_000007.12:g.117041612_117041615dup	NCBI36
NG_016465.4:g.153539_153542dup , LRG_663:g.153539_153542dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3368-291_3368-288dup	ENSP00000497673.2:n.3368-291_3368-288dup
ENST00000647978.2:c.*3082-291_*3082-288dup	ENSP00000497658.1:n.*3082-291_*3082-288dup
ENST00000649781.2:c.3185-291_3185-288dup	ENSP00000497203.1:n.3185-291_3185-288dup
ENST00000685018.2:c.3368-291_3368-288dup	ENSP00000510194.2:n.3368-291_3368-288dup
ENST00000687278.2:c.3368-291_3368-288dup	ENSP00000509593.2:n.3368-291_3368-288dup
ENST00000699585.1:c.3368-291_3368-288dup	ENSP00000514456.1:n.3368-291_3368-288dup
ENST00000699598.1:c.3368-291_3368-288dup	ENSP00000514467.1:n.3368-291_3368-288dup
ENST00000699599.1:c.3368-291_3368-288dup	ENSP00000514468.1:n.3368-291_3368-288dup
ENST00000699600.1:c.3368-291_3368-288dup	ENSP00000514469.1:n.3368-291_3368-288dup
ENST00000699601.1:c.*1668-216_*1668-213dup	ENSP00000514470.1:n.*1668-216_*1668-213dup
ENST00000699602.1:c.3368-297_3368-294dup	ENSP00000514471.1:n.3368-297_3368-294dup
ENST00000699604.1:c.*3192-291_*3192-288dup	ENSP00000514472.1:n.*3192-291_*3192-288dup
ENST00000699605.1:c.2942-291_2942-288dup	ENSP00000514473.1:n.2942-291_2942-288dup
ENST00000685018.1:c.116-291_116-288dup	ENSP00000510194.1:n.116-291_116-288dup
ENST00000687278.1:c.959-291_959-288dup	ENSP00000509593.1:n.959-291_959-288dup
ENST00000003084.11:c.3368-291_3368-288dup MANE Select	ENSP00000003084.6:n.3368-291_3368-288dup
ENST00000647720.1:c.1018-291_1018-288dup
ENST00000648260.1:c.2150-291_2150-288dup	ENSP00000497957.1:n.2150-291_2150-288dup
ENST00000649406.1:c.3185-291_3185-288dup	ENSP00000497965.1:n.3185-291_3185-288dup
ENST00000649781.1:c.3185-291_3185-288dup	ENSP00000497203.1:n.3185-291_3185-288dup
ENST00000003084.10:c.3368-291_3368-288dup	ENSP00000003084.6:n.3368-291_3368-288dup
ENST00000426809.5:c.3278-291_3278-288dup	ENSP00000389119.1:n.3278-291_3278-288dup
ENST00000468795.1:c.193-291_193-288dup
NM_000492.3:c.3368-291_3368-288dup , LRG_663t1:c.3368-291_3368-288dup	NP_000483.3:n.3368-291_3368-288dup
XM_011515751.1:c.3458-291_3458-288dup	XP_011514053.1:n.3458-291_3458-288dup
XM_011515752.1:c.3458-291_3458-288dup	XP_011514054.1:n.3458-291_3458-288dup
XM_011515753.1:c.3125-291_3125-288dup	XP_011514055.1:n.3125-291_3125-288dup
XM_011515754.1:c.3125-291_3125-288dup	XP_011514056.1:n.3125-291_3125-288dup
NM_000492.4:c.3368-291_3368-288dup MANE Select	NP_000483.3:n.3368-291_3368-288dup