Canonical Allele Identifier: CA4450816

Gene: CFTR

Linked Data

• dbSNP Id: rs779557466
• ExAC: 7:117175503 TTA / T
• gnomAD v2: 7-117175503-TTA-T
• MyVariant Identifiers: chr7:g.117175504_117175505del (hg19) ; chr7:g.117535450_117535451del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117535451_117535452del , CM000669.2:g.117535451_117535452del	GRCh38
NC_000007.13:g.117175505_117175506del , CM000669.1:g.117175505_117175506del	GRCh37
NC_000007.12:g.116962741_116962742del	NCBI36
NG_016465.4:g.74668_74669del , LRG_663:g.74668_74669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.743+40_743+41del	ENSP00000497673.2:n.743+40_743+41del
ENST00000647978.2:c.*640+40_*640+41del	ENSP00000497658.1:n.*640+40_*640+41del
ENST00000649781.2:c.743+40_743+41del	ENSP00000497203.1:n.743+40_743+41del
ENST00000685018.2:c.743+40_743+41del	ENSP00000510194.2:n.743+40_743+41del
ENST00000687278.2:c.743+40_743+41del	ENSP00000509593.2:n.743+40_743+41del
ENST00000699585.1:c.743+40_743+41del	ENSP00000514456.1:n.743+40_743+41del
ENST00000699596.1:c.743+40_743+41del	ENSP00000514465.1:n.743+40_743+41del
ENST00000699597.1:c.743+40_743+41del	ENSP00000514466.1:n.743+40_743+41del
ENST00000699598.1:c.743+40_743+41del	ENSP00000514467.1:n.743+40_743+41del
ENST00000699599.1:c.743+40_743+41del	ENSP00000514468.1:n.743+40_743+41del
ENST00000699600.1:c.743+40_743+41del	ENSP00000514469.1:n.743+40_743+41del
ENST00000699601.1:c.743+40_743+41del	ENSP00000514470.1:n.743+40_743+41del
ENST00000699602.1:c.743+40_743+41del	ENSP00000514471.1:n.743+40_743+41del
ENST00000699604.1:c.*567+40_*567+41del	ENSP00000514472.1:n.*567+40_*567+41del
ENST00000699605.1:c.500+40_500+41del	ENSP00000514473.1:n.500+40_500+41del
ENST00000003084.11:c.743+40_743+41del MANE Select	ENSP00000003084.6:n.743+40_743+41del
ENST00000647978.1:c.*640+40_*640+41del	ENSP00000497658.1:n.*640+40_*640+41del
ENST00000648260.1:c.743+40_743+41del	ENSP00000497957.1:n.743+40_743+41del
ENST00000649406.1:c.743+40_743+41del	ENSP00000497965.1:n.743+40_743+41del
ENST00000649781.1:c.743+40_743+41del	ENSP00000497203.1:n.743+40_743+41del
ENST00000673785.1:c.500+40_500+41del	ENSP00000501235.1:n.500+40_500+41del
ENST00000003084.10:c.743+40_743+41del	ENSP00000003084.6:n.743+40_743+41del
ENST00000426809.5:c.653+40_653+41del	ENSP00000389119.1:n.653+40_653+41del
NM_000492.3:c.743+40_743+41del , LRG_663t1:c.743+40_743+41del	NP_000483.3:n.743+40_743+41del
XM_011515751.1:c.833+40_833+41del	XP_011514053.1:n.833+40_833+41del
XM_011515752.1:c.833+40_833+41del	XP_011514054.1:n.833+40_833+41del
XM_011515753.1:c.500+40_500+41del	XP_011514055.1:n.500+40_500+41del
XM_011515754.1:c.500+40_500+41del	XP_011514056.1:n.500+40_500+41del
NM_000492.4:c.743+40_743+41del MANE Select	NP_000483.3:n.743+40_743+41del