Canonical Allele Identifier: CA325542

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53396
• ClinVar RCV Id: RCV000046486
• dbSNP Id: rs121908777
• gnomAD v3: 7-117591983-AAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC-A
• gnomAD v4: 7-117591983-AAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC-A
• MyVariant Identifiers: chr7:g.117232041_117232124del (hg19) ; chr7:g.117232038_117232121del (hg19) ; chr7:g.117591987_117592070del (hg38) ; chr7:g.117591984_117592067del (hg38)
• PubMed: PMID:1284539 ; PMID:1373934 ; PMID:10777364 ; PMID:10875853 ; PMID:15371903 ; PMID:15858154 ; PMID:17331079 ; PMID:21474639 ; PMID:21520337

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591987_117592070del , CM000669.2:g.117591987_117592070del	GRCh38
NC_000007.13:g.117232041_117232124del , CM000669.1:g.117232041_117232124del	GRCh37
NC_000007.12:g.117019277_117019360del	NCBI36
NG_016465.4:g.131204_131287del , LRG_663:g.131204_131287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1820_1903del	ENSP00000497673.2:p.Met607_Gln634del
ENST00000647978.2:c.*1534_*1617del	ENSP00000497658.1:n.*1534_*1617del
ENST00000649781.2:c.1637_1720del	ENSP00000497203.1:p.Met546_Gln573del
ENST00000685018.2:c.1820_1903del	ENSP00000510194.2:p.Met607_Gln634del
ENST00000687278.2:c.1820_1903del	ENSP00000509593.2:p.Met607_Gln634del
ENST00000699585.1:c.1820_1903del	ENSP00000514456.1:p.Met607_Gln634del
ENST00000699598.1:c.1820_1903del	ENSP00000514467.1:p.Met607_Gln634del
ENST00000699599.1:c.1820_1903del	ENSP00000514468.1:p.Met607_Gln634del
ENST00000699600.1:c.1820_1903del	ENSP00000514469.1:p.Met607_Gln634del
ENST00000699601.1:c.*120_*203del	ENSP00000514470.1:n.*120_*203del
ENST00000699602.1:c.1820_1903del	ENSP00000514471.1:p.Met607_Gln634del
ENST00000699604.1:c.*1644_*1727del	ENSP00000514472.1:n.*1644_*1727del
ENST00000699605.1:c.1394_1477del	ENSP00000514473.1:p.Met465_Gln492del
ENST00000003084.11:c.1820_1903del MANE Select	ENSP00000003084.6:p.Met607_Gln634del
ENST00000647978.1:c.*1534_*1617del	ENSP00000497658.1:n.*1534_*1617del
ENST00000648260.1:c.1402-10839_1402-10756del	ENSP00000497957.1:n.1402-10839_1402-10756del
ENST00000649406.1:c.1637_1720del	ENSP00000497965.1:p.Met546_Gln573del
ENST00000649781.1:c.1637_1720del	ENSP00000497203.1:p.Met546_Gln573del
ENST00000003084.10:c.1820_1903del	ENSP00000003084.6:p.Met607_Gln634del
ENST00000426809.5:c.1730_1813del	ENSP00000389119.1:p.Met577_Gln604del
NM_000492.3:c.1820_1903del , LRG_663t1:c.1820_1903del	NP_000483.3:p.Met607_Gln634del
XM_011515751.1:c.1910_1993del	XP_011514053.1:p.Met637_Gln664del
XM_011515752.1:c.1910_1993del	XP_011514054.1:p.Met637_Gln664del
XM_011515753.1:c.1577_1660del	XP_011514055.1:p.Met526_Gln553del
XM_011515754.1:c.1577_1660del	XP_011514056.1:p.Met526_Gln553del
NM_000492.4:c.1820_1903del MANE Select	NP_000483.3:p.Met607_Gln634del