Canonical Allele Identifier: CA327176

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53737
• ClinVar RCV Id: RCV000577383 ; RCV001009521
• dbSNP Id: rs397508557
• MyVariant Identifiers: chr7:g.117254717_117254719del (hg19) ; chr7:g.117614663_117614665del (hg38)
• PubMed: PMID:9804160 ; PMID:11379874

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614664_117614666del , CM000669.2:g.117614664_117614666del	GRCh38
NC_000007.13:g.117254718_117254720del , CM000669.1:g.117254718_117254720del	GRCh37
NC_000007.12:g.117041954_117041956del	NCBI36
NG_016465.4:g.153881_153883del , LRG_663:g.153881_153883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3419_3421del	ENSP00000497673.2:p.Met1140del
ENST00000647978.2:c.*3133_*3135del	ENSP00000497658.1:n.*3133_*3135del
ENST00000649781.2:c.3236_3238del	ENSP00000497203.1:p.Met1079del
ENST00000685018.2:c.3419_3421del	ENSP00000510194.2:p.Met1140del
ENST00000687278.2:c.3419_3421del	ENSP00000509593.2:p.Met1140del
ENST00000699585.1:c.3419_3421del	ENSP00000514456.1:p.Met1140del
ENST00000699598.1:c.3419_3421del	ENSP00000514467.1:p.Met1140del
ENST00000699599.1:c.3419_3421del	ENSP00000514468.1:p.Met1140del
ENST00000699600.1:c.3419_3421del	ENSP00000514469.1:p.Met1140del
ENST00000699601.1:c.*1794_*1796del	ENSP00000514470.1:n.*1794_*1796del
ENST00000699602.1:c.3413_3415del	ENSP00000514471.1:p.Met1138del
ENST00000699604.1:c.*3243_*3245del	ENSP00000514472.1:n.*3243_*3245del
ENST00000699605.1:c.2993_2995del	ENSP00000514473.1:p.Met998del
ENST00000685018.1:c.167_169del	ENSP00000510194.1:p.Met56del
ENST00000687278.1:c.1010_1012del	ENSP00000509593.1:p.Met337del
ENST00000003084.11:c.3419_3421del MANE Select	ENSP00000003084.6:p.Met1140del
ENST00000647720.1:c.1069_1071del
ENST00000648260.1:c.2201_2203del	ENSP00000497957.1:p.Met734del
ENST00000649406.1:c.3236_3238del	ENSP00000497965.1:p.Met1079del
ENST00000649781.1:c.3236_3238del	ENSP00000497203.1:p.Met1079del
ENST00000003084.10:c.3419_3421del	ENSP00000003084.6:p.Met1140del
ENST00000426809.5:c.3329_3331del	ENSP00000389119.1:p.Met1110del
ENST00000468795.1:c.244_246del
NM_000492.3:c.3419_3421del , LRG_663t1:c.3419_3421del	NP_000483.3:p.Met1140del
XM_011515751.1:c.3509_3511del	XP_011514053.1:p.Met1170del
XM_011515752.1:c.3509_3511del	XP_011514054.1:p.Met1170del
XM_011515753.1:c.3176_3178del	XP_011514055.1:p.Met1059del
XM_011515754.1:c.3176_3178del	XP_011514056.1:p.Met1059del
NM_000492.4:c.3419_3421del MANE Select	NP_000483.3:p.Met1140del