Canonical Allele Identifier: CA327037

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53646
• ClinVar RCV Id: RCV001009407
• dbSNP Id: rs397508493
• MyVariant Identifiers: chr7:g.117250652_117250656del (hg19) ; chr7:g.117610598_117610602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610598_117610602del , CM000669.2:g.117610598_117610602del	GRCh38
NC_000007.13:g.117250652_117250656del , CM000669.1:g.117250652_117250656del	GRCh37
NC_000007.12:g.117037888_117037892del	NCBI36
NG_016465.4:g.149815_149819del , LRG_663:g.149815_149819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3068_3072del	ENSP00000497673.2:p.Ile1023SerfsTer22
ENST00000647978.2:c.*2782_*2786del	ENSP00000497658.1:n.*2782_*2786del
ENST00000649781.2:c.2885_2889del	ENSP00000497203.1:p.Ile962SerfsTer22
ENST00000685018.2:c.3068_3072del	ENSP00000510194.2:p.Ile1023SerfsTer22
ENST00000687278.2:c.3068_3072del	ENSP00000509593.2:p.Ile1023SerfsTer22
ENST00000699585.1:c.3068_3072del	ENSP00000514456.1:p.Ile1023SerfsTer22
ENST00000699598.1:c.3068_3072del	ENSP00000514467.1:p.Ile1023SerfsTer22
ENST00000699599.1:c.3068_3072del	ENSP00000514468.1:p.Ile1023SerfsTer22
ENST00000699600.1:c.3068_3072del	ENSP00000514469.1:p.Ile1023SerfsTer22
ENST00000699601.1:c.*1368_*1372del	ENSP00000514470.1:n.*1368_*1372del
ENST00000699602.1:c.3068_3072del	ENSP00000514471.1:p.Ile1023SerfsTer22
ENST00000699604.1:c.*2892_*2896del	ENSP00000514472.1:n.*2892_*2896del
ENST00000699605.1:c.2642_2646del	ENSP00000514473.1:p.Ile881SerfsTer22
ENST00000687278.1:c.659_663del	ENSP00000509593.1:p.Ile220SerfsTer22
ENST00000003084.11:c.3068_3072del MANE Select	ENSP00000003084.6:p.Ile1023SerfsTer22
ENST00000647720.1:c.718_722del
ENST00000648260.1:c.1850_1854del	ENSP00000497957.1:p.Ile617SerfsTer22
ENST00000649406.1:c.2885_2889del	ENSP00000497965.1:p.Ile962SerfsTer22
ENST00000649781.1:c.2885_2889del	ENSP00000497203.1:p.Ile962SerfsTer22
ENST00000003084.10:c.3068_3072del	ENSP00000003084.6:p.Ile1023SerfsTer22
ENST00000426809.5:c.2978_2982del	ENSP00000389119.1:p.Ile993SerfsTer22
NM_000492.3:c.3068_3072del , LRG_663t1:c.3068_3072del	NP_000483.3:p.Ile1023SerfsTer22
XM_011515751.1:c.3158_3162del	XP_011514053.1:p.Ile1053SerfsTer22
XM_011515752.1:c.3158_3162del	XP_011514054.1:p.Ile1053SerfsTer22
XM_011515753.1:c.2825_2829del	XP_011514055.1:p.Ile942SerfsTer22
XM_011515754.1:c.2825_2829del	XP_011514056.1:p.Ile942SerfsTer22
NM_000492.4:c.3068_3072del MANE Select	NP_000483.3:p.Ile1023SerfsTer22