Canonical Allele Identifier: CA221033

Gene: CFTR

Linked Data

• ClinVar Variation Id: 54007
• ClinVar RCV Id: RCV000047199 ; RCV000506873 ; RCV000763154 ; RCV001831795
• dbSNP Id: rs397508759
• gnomAD v4: 7-117534363-G-T
• MyVariant Identifiers: chr7:g.117174417G>T (hg19) ; chr7:g.117534363G>T (hg38)
• PubMed: PMID:20059485 ; PMID:22020151 ; PMID:22658665 ; PMID:23974870 ; PMID:24525081

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117534363G>T , CM000669.2:g.117534363G>T	GRCh38
NC_000007.13:g.117174417G>T , CM000669.1:g.117174417G>T	GRCh37
NC_000007.12:g.116961653G>T	NCBI36
NG_016465.4:g.73580G>T , LRG_663:g.73580G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.577G>T	ENSP00000497673.2:p.Glu193Ter
ENST00000647978.2:c.*474G>T	ENSP00000497658.1:n.*474G>T
ENST00000649781.2:c.577G>T	ENSP00000497203.1:p.Glu193Ter
ENST00000685018.2:c.577G>T	ENSP00000510194.2:p.Glu193Ter
ENST00000687278.2:c.577G>T	ENSP00000509593.2:p.Glu193Ter
ENST00000699585.1:c.577G>T	ENSP00000514456.1:p.Glu193Ter
ENST00000699596.1:c.577G>T	ENSP00000514465.1:p.Glu193Ter
ENST00000699597.1:c.577G>T	ENSP00000514466.1:p.Glu193Ter
ENST00000699598.1:c.577G>T	ENSP00000514467.1:p.Glu193Ter
ENST00000699599.1:c.577G>T	ENSP00000514468.1:p.Glu193Ter
ENST00000699600.1:c.577G>T	ENSP00000514469.1:p.Glu193Ter
ENST00000699601.1:c.577G>T	ENSP00000514470.1:p.Glu193Ter
ENST00000699602.1:c.577G>T	ENSP00000514471.1:p.Glu193Ter
ENST00000699604.1:c.*401G>T	ENSP00000514472.1:n.*401G>T
ENST00000699605.1:c.334G>T	ENSP00000514473.1:p.Glu112Ter
ENST00000003084.11:c.577G>T MANE Select	ENSP00000003084.6:p.Glu193Ter
ENST00000647978.1:c.*474G>T	ENSP00000497658.1:n.*474G>T
ENST00000648260.1:c.577G>T	ENSP00000497957.1:p.Glu193Ter
ENST00000649406.1:c.577G>T	ENSP00000497965.1:p.Glu193Ter
ENST00000649781.1:c.577G>T	ENSP00000497203.1:p.Glu193Ter
ENST00000673785.1:c.334G>T	ENSP00000501235.1:p.Glu112Ter
ENST00000003084.10:c.577G>T	ENSP00000003084.6:p.Glu193Ter
ENST00000426809.5:c.490-885G>T	ENSP00000389119.1:n.490-885G>T
NM_000492.3:c.577G>T , LRG_663t1:c.577G>T	NP_000483.3:p.Glu193Ter
XM_011515751.1:c.667G>T	XP_011514053.1:p.Glu223Ter
XM_011515752.1:c.667G>T	XP_011514054.1:p.Glu223Ter
XM_011515753.1:c.334G>T	XP_011514055.1:p.Glu112Ter
XM_011515754.1:c.334G>T	XP_011514056.1:p.Glu112Ter
NM_000492.4:c.577G>T MANE Select	NP_000483.3:p.Glu193Ter