Canonical Allele Identifier: CA658822028

Gene: CFTR

Linked Data

• ClinVar Variation Id: 556329
• ClinVar RCV Id: RCV000672323
• dbSNP Id: rs1554373081
• MyVariant Identifiers: chr7:g.117480091_117480092dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117480091_117480092dup , CM000669.2:g.117480091_117480092dup	GRCh38
NC_000007.13:g.117120145_117120146dup , CM000669.1:g.117120145_117120146dup	GRCh37
NC_000007.12:g.116907381_116907382dup	NCBI36
NG_016465.4:g.19308_19309dup , LRG_663:g.19308_19309dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.-4_-3dup	ENSP00000497673.2:n.-4_-3dup
ENST00000647978.2:c.-4_-3dup	ENSP00000497658.1:n.-4_-3dup
ENST00000649781.2:c.-4_-3dup	ENSP00000497203.1:n.-4_-3dup
ENST00000649850.2:c.-4_-3dup	ENSP00000514457.1:n.-4_-3dup
ENST00000685018.2:c.-4_-3dup	ENSP00000510194.2:n.-4_-3dup
ENST00000687278.2:c.-4_-3dup	ENSP00000509593.2:n.-4_-3dup
ENST00000692802.2:n.81_82dup
ENST00000693465.2:n.82_83dup
ENST00000693480.2:n.81_82dup
ENST00000699585.1:c.-4_-3dup	ENSP00000514456.1:n.-4_-3dup
ENST00000699596.1:c.-4_-3dup	ENSP00000514465.1:n.-4_-3dup
ENST00000699597.1:c.-4_-3dup	ENSP00000514466.1:n.-4_-3dup
ENST00000699598.1:c.-4_-3dup	ENSP00000514467.1:n.-4_-3dup
ENST00000699599.1:c.-4_-3dup	ENSP00000514468.1:n.-4_-3dup
ENST00000699600.1:c.-4_-3dup	ENSP00000514469.1:n.-4_-3dup
ENST00000699601.1:c.-4_-3dup	ENSP00000514470.1:n.-4_-3dup
ENST00000699602.1:c.-4_-3dup	ENSP00000514471.1:n.-4_-3dup
ENST00000699603.1:n.81_82dup
ENST00000699604.1:c.-4_-3dup	ENSP00000514472.1:n.-4_-3dup
ENST00000699605.1:c.-356_-355dup	ENSP00000514473.1:n.-356_-355dup
ENST00000446805.2:c.-191+397_-191+398dup	ENSP00000417012.1:n.-191+397_-191+398dup
ENST00000692802.1:n.67_68dup
ENST00000693465.1:n.67_68dup
ENST00000693480.1:n.67_68dup
ENST00000003084.11:c.-4_-3dup MANE Select	ENSP00000003084.6:n.-4_-3dup
ENST00000647639.1:n.81_82dup
ENST00000647978.1:c.-4_-3dup	ENSP00000497658.1:n.-4_-3dup
ENST00000648260.1:c.-4_-3dup	ENSP00000497957.1:n.-4_-3dup
ENST00000649406.1:c.-4_-3dup	ENSP00000497965.1:n.-4_-3dup
ENST00000649850.1:n.80_81dup
ENST00000673785.1:c.-406+14260_-406+14261dup	ENSP00000501235.1:n.-406+14260_-406+14261dup
ENST00000003084.10:c.-4_-3dup	ENSP00000003084.6:n.-4_-3dup
ENST00000446805.1:c.-191+397_-191+398dup	ENSP00000417012.1:n.-191+397_-191+398dup
ENST00000546407.1:n.166+4283_166+4284dup
NM_000492.3:c.-4_-3dup , LRG_663t1:c.-4_-3dup	NP_000483.3:n.-4_-3dup
XM_011515751.1:c.143+746_143+747dup	XP_011514053.1:n.143+746_143+747dup
XM_011515752.1:c.143+746_143+747dup	XP_011514054.1:n.143+746_143+747dup
XM_011515753.1:c.-191+397_-191+398dup	XP_011514055.1:n.-191+397_-191+398dup
XM_011515754.1:c.-518-57_-518-56dup	XP_011514056.1:n.-518-57_-518-56dup
NM_000492.4:c.-4_-3dup MANE Select	NP_000483.3:n.-4_-3dup