Canonical Allele Identifier: CA327540

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53979
• ClinVar RCV Id: RCV000047170 ; RCV000733082
• dbSNP Id: rs397508714
• MyVariant Identifiers: chr7:g.117120197_117120198dupTT (hg19) ; chr7:g.117480143_117480144dupTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480143_117480144dup , CM000669.2:g.117480143_117480144dup	GRCh38
NC_000007.13:g.117120197_117120198dup , CM000669.1:g.117120197_117120198dup	GRCh37
NC_000007.12:g.116907433_116907434dup	NCBI36
NG_016465.4:g.19360_19361dup , LRG_663:g.19360_19361dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.49_50dup	ENSP00000497673.2:p.Trp19AlafsTer7
ENST00000647978.2:c.49_50dup	ENSP00000497658.1:p.Trp19AlafsTer7
ENST00000649781.2:c.49_50dup	ENSP00000497203.1:p.Trp19AlafsTer7
ENST00000649850.2:c.49_50dup	ENSP00000514457.1:p.Trp19AlafsTer7
ENST00000685018.2:c.49_50dup	ENSP00000510194.2:p.Trp19AlafsTer7
ENST00000687278.2:c.49_50dup	ENSP00000509593.2:p.Trp19AlafsTer7
ENST00000692802.2:n.133_134dup
ENST00000693465.2:n.134_135dup
ENST00000693480.2:n.133_134dup
ENST00000699585.1:c.49_50dup	ENSP00000514456.1:p.Trp19AlafsTer7
ENST00000699596.1:c.49_50dup	ENSP00000514465.1:p.Trp19AlafsTer7
ENST00000699597.1:c.49_50dup	ENSP00000514466.1:p.Trp19AlafsTer7
ENST00000699598.1:c.49_50dup	ENSP00000514467.1:p.Trp19AlafsTer7
ENST00000699599.1:c.49_50dup	ENSP00000514468.1:p.Trp19AlafsTer7
ENST00000699600.1:c.49_50dup	ENSP00000514469.1:p.Trp19AlafsTer7
ENST00000699601.1:c.49_50dup	ENSP00000514470.1:p.Trp19AlafsTer7
ENST00000699602.1:c.49_50dup	ENSP00000514471.1:p.Trp19AlafsTer7
ENST00000699603.1:n.133_134dup
ENST00000699604.1:c.49_50dup	ENSP00000514472.1:p.Trp19AlafsTer7
ENST00000699605.1:c.-304_-303dup	ENSP00000514473.1:n.-304_-303dup
ENST00000446805.2:c.-191+449_-191+450dup	ENSP00000417012.1:n.-191+449_-191+450dup
ENST00000692802.1:n.119_120dup
ENST00000693465.1:n.119_120dup
ENST00000693480.1:n.119_120dup
ENST00000003084.11:c.49_50dup MANE Select	ENSP00000003084.6:p.Trp19AlafsTer7
ENST00000647639.1:n.133_134dup
ENST00000647978.1:c.49_50dup	ENSP00000497658.1:p.Trp19AlafsTer7
ENST00000648260.1:c.49_50dup	ENSP00000497957.1:p.Trp19AlafsTer7
ENST00000649406.1:c.49_50dup	ENSP00000497965.1:p.Trp19AlafsTer7
ENST00000649781.1:c.49_50dup	ENSP00000497203.1:p.Trp19AlafsTer7
ENST00000649850.1:n.132_133dup
ENST00000673785.1:c.-406+14312_-406+14313dup	ENSP00000501235.1:n.-406+14312_-406+14313dup
ENST00000003084.10:c.49_50dup	ENSP00000003084.6:p.Trp19AlafsTer7
ENST00000426809.5:c.49_50dup	ENSP00000389119.1:p.Trp19AlafsTer7
ENST00000446805.1:c.-191+449_-191+450dup	ENSP00000417012.1:n.-191+449_-191+450dup
ENST00000546407.1:n.166+4335_166+4336dup
NM_000492.3:c.49_50dup , LRG_663t1:c.49_50dup	NP_000483.3:p.Trp19AlafsTer7
XM_011515751.1:c.143+798_143+799dup	XP_011514053.1:n.143+798_143+799dup
XM_011515752.1:c.143+798_143+799dup	XP_011514054.1:n.143+798_143+799dup
XM_011515753.1:c.-191+449_-191+450dup	XP_011514055.1:n.-191+449_-191+450dup
XM_011515754.1:c.-518-5_-518-4dup	XP_011514056.1:n.-518-5_-518-4dup
NM_000492.4:c.49_50dup MANE Select	NP_000483.3:p.Trp19AlafsTer7