Canonical Allele Identifier: CA832121167

Gene: CFTR

Linked Data

• dbSNP Id: rs1352957744
• gnomAD v3: 7-117614211-CTT-C
• gnomAD v4: 7-117614211-CTT-C
• MyVariant Identifiers: chr7:g.117254266_117254267del (hg19) ; chr7:g.117614212_117614213del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614213_117614214del , CM000669.2:g.117614213_117614214del	GRCh38
NC_000007.13:g.117254267_117254268del , CM000669.1:g.117254267_117254268del	GRCh37
NC_000007.12:g.117041503_117041504del	NCBI36
NG_016465.4:g.153430_153431del , LRG_663:g.153430_153431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3368-400_3368-399del	ENSP00000497673.2:n.3368-400_3368-399del
ENST00000647978.2:c.*3082-400_*3082-399del	ENSP00000497658.1:n.*3082-400_*3082-399del
ENST00000649781.2:c.3185-400_3185-399del	ENSP00000497203.1:n.3185-400_3185-399del
ENST00000685018.2:c.3368-400_3368-399del	ENSP00000510194.2:n.3368-400_3368-399del
ENST00000687278.2:c.3368-400_3368-399del	ENSP00000509593.2:n.3368-400_3368-399del
ENST00000699585.1:c.3368-400_3368-399del	ENSP00000514456.1:n.3368-400_3368-399del
ENST00000699598.1:c.3368-400_3368-399del	ENSP00000514467.1:n.3368-400_3368-399del
ENST00000699599.1:c.3368-400_3368-399del	ENSP00000514468.1:n.3368-400_3368-399del
ENST00000699600.1:c.3368-400_3368-399del	ENSP00000514469.1:n.3368-400_3368-399del
ENST00000699601.1:c.*1668-325_*1668-324del	ENSP00000514470.1:n.*1668-325_*1668-324del
ENST00000699602.1:c.3368-406_3368-405del	ENSP00000514471.1:n.3368-406_3368-405del
ENST00000699604.1:c.*3192-400_*3192-399del	ENSP00000514472.1:n.*3192-400_*3192-399del
ENST00000699605.1:c.2942-400_2942-399del	ENSP00000514473.1:n.2942-400_2942-399del
ENST00000685018.1:c.116-400_116-399del	ENSP00000510194.1:n.116-400_116-399del
ENST00000687278.1:c.959-400_959-399del	ENSP00000509593.1:n.959-400_959-399del
ENST00000003084.11:c.3368-400_3368-399del MANE Select	ENSP00000003084.6:n.3368-400_3368-399del
ENST00000647720.1:c.1018-400_1018-399del
ENST00000648260.1:c.2150-400_2150-399del	ENSP00000497957.1:n.2150-400_2150-399del
ENST00000649406.1:c.3185-400_3185-399del	ENSP00000497965.1:n.3185-400_3185-399del
ENST00000649781.1:c.3185-400_3185-399del	ENSP00000497203.1:n.3185-400_3185-399del
ENST00000003084.10:c.3368-400_3368-399del	ENSP00000003084.6:n.3368-400_3368-399del
ENST00000426809.5:c.3278-400_3278-399del	ENSP00000389119.1:n.3278-400_3278-399del
ENST00000468795.1:c.193-400_193-399del
NM_000492.3:c.3368-400_3368-399del , LRG_663t1:c.3368-400_3368-399del	NP_000483.3:n.3368-400_3368-399del
XM_011515751.1:c.3458-400_3458-399del	XP_011514053.1:n.3458-400_3458-399del
XM_011515752.1:c.3458-400_3458-399del	XP_011514054.1:n.3458-400_3458-399del
XM_011515753.1:c.3125-400_3125-399del	XP_011514055.1:n.3125-400_3125-399del
XM_011515754.1:c.3125-400_3125-399del	XP_011514056.1:n.3125-400_3125-399del
NM_000492.4:c.3368-400_3368-399del MANE Select	NP_000483.3:n.3368-400_3368-399del