Canonical Allele Identifier: CA326993

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53611
• ClinVar RCV Id: RCV000577451 ; RCV003155058 ; RCV003474561
• dbSNP Id: rs397508468
• gnomAD v4: 7-117606742-G-T
• MyVariant Identifiers: chr7:g.117246796G>T (hg19) ; chr7:g.117606742G>T (hg38)
• PubMed: PMID:15698946

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606742G>T , CM000669.2:g.117606742G>T	GRCh38
NC_000007.13:g.117246796G>T , CM000669.1:g.117246796G>T	GRCh37
NC_000007.12:g.117034032G>T	NCBI36
NG_016465.4:g.145959G>T , LRG_663:g.145959G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2977G>T	ENSP00000497673.2:p.Asp993Tyr
ENST00000647978.2:c.*2691G>T	ENSP00000497658.1:n.*2691G>T
ENST00000649781.2:c.2794G>T	ENSP00000497203.1:p.Asp932Tyr
ENST00000685018.2:c.2977G>T	ENSP00000510194.2:p.Asp993Tyr
ENST00000687278.2:c.2977G>T	ENSP00000509593.2:p.Asp993Tyr
ENST00000699585.1:c.2977G>T	ENSP00000514456.1:p.Asp993Tyr
ENST00000699598.1:c.2977G>T	ENSP00000514467.1:p.Asp993Tyr
ENST00000699599.1:c.2977G>T	ENSP00000514468.1:p.Asp993Tyr
ENST00000699600.1:c.2977G>T	ENSP00000514469.1:p.Asp993Tyr
ENST00000699601.1:c.*1277G>T	ENSP00000514470.1:n.*1277G>T
ENST00000699602.1:c.2977G>T	ENSP00000514471.1:p.Asp993Tyr
ENST00000699604.1:c.*2801G>T	ENSP00000514472.1:n.*2801G>T
ENST00000699605.1:c.2551G>T	ENSP00000514473.1:p.Asp851Tyr
ENST00000687278.1:c.568G>T	ENSP00000509593.1:p.Asp190Tyr
ENST00000003084.11:c.2977G>T MANE Select	ENSP00000003084.6:p.Asp993Tyr
ENST00000647720.1:c.627G>T
ENST00000648260.1:c.1759G>T	ENSP00000497957.1:p.Asp587Tyr
ENST00000649406.1:c.2794G>T	ENSP00000497965.1:p.Asp932Tyr
ENST00000649781.1:c.2794G>T	ENSP00000497203.1:p.Asp932Tyr
ENST00000003084.10:c.2977G>T	ENSP00000003084.6:p.Asp993Tyr
ENST00000426809.5:c.2887G>T	ENSP00000389119.1:p.Asp963Tyr
NM_000492.3:c.2977G>T , LRG_663t1:c.2977G>T	NP_000483.3:p.Asp993Tyr
XM_011515751.1:c.3067G>T	XP_011514053.1:p.Asp1023Tyr
XM_011515752.1:c.3067G>T	XP_011514054.1:p.Asp1023Tyr
XM_011515753.1:c.2734G>T	XP_011514055.1:p.Asp912Tyr
XM_011515754.1:c.2734G>T	XP_011514056.1:p.Asp912Tyr
NM_000492.4:c.2977G>T MANE Select	NP_000483.3:p.Asp993Tyr