Canonical Allele Identifier: CA368984098
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 983582
ClinVar RCV Id: RCV001263581
dbSNP Id: rs1792100143

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117595056G>T , CM000669.2:g.117595056G>T GRCh38
NC_000007.13:g.117235110G>T , CM000669.1:g.117235110G>T GRCh37
NC_000007.12:g.117022346G>T NCBI36
NG_016465.4:g.134273G>T , LRG_663:g.134273G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2617G>T ENSP00000497673.2:p.Glu873Ter
ENST00000647978.2:c.*2331G>T ENSP00000497658.1:n.*2331G>T
ENST00000649781.2:c.2434G>T ENSP00000497203.1:p.Glu812Ter
ENST00000685018.2:c.2617G>T ENSP00000510194.2:p.Glu873Ter
ENST00000687278.2:c.2617G>T ENSP00000509593.2:p.Glu873Ter
ENST00000699585.1:c.2617G>T ENSP00000514456.1:p.Glu873Ter
ENST00000699598.1:c.2617G>T ENSP00000514467.1:p.Glu873Ter
ENST00000699599.1:c.2617G>T ENSP00000514468.1:p.Glu873Ter
ENST00000699600.1:c.2617G>T ENSP00000514469.1:p.Glu873Ter
ENST00000699601.1:c.*917G>T ENSP00000514470.1:n.*917G>T
ENST00000699602.1:c.2617G>T ENSP00000514471.1:p.Glu873Ter
ENST00000699604.1:c.*2441G>T ENSP00000514472.1:n.*2441G>T
ENST00000699605.1:c.2191G>T ENSP00000514473.1:p.Glu731Ter
ENST00000687278.1:c.208G>T ENSP00000509593.1:p.Glu70Ter
ENST00000003084.11:c.2617G>T MANE Select ENSP00000003084.6:p.Glu873Ter
ENST00000647720.1:c.267G>T
ENST00000648260.1:c.1402-7770G>T ENSP00000497957.1:n.1402-7770G>T
ENST00000649406.1:c.2434G>T ENSP00000497965.1:p.Glu812Ter
ENST00000649781.1:c.2434G>T ENSP00000497203.1:p.Glu812Ter
ENST00000003084.10:c.2617G>T ENSP00000003084.6:p.Glu873Ter
ENST00000426809.5:c.2527G>T ENSP00000389119.1:p.Glu843Ter
NM_000492.3:c.2617G>T , LRG_663t1:c.2617G>T NP_000483.3:p.Glu873Ter
XM_011515751.1:c.2707G>T XP_011514053.1:p.Glu903Ter
XM_011515752.1:c.2707G>T XP_011514054.1:p.Glu903Ter
XM_011515753.1:c.2374G>T XP_011514055.1:p.Glu792Ter
XM_011515754.1:c.2374G>T XP_011514056.1:p.Glu792Ter
NM_000492.4:c.2617G>T MANE Select NP_000483.3:p.Glu873Ter