Canonical Allele Identifier: CA368989108
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 3231874
ClinVar RCV Id: RCV004518589
dbSNP Id: rs1792306355

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117606716A>G , CM000669.2:g.117606716A>G GRCh38
NC_000007.13:g.117246770A>G , CM000669.1:g.117246770A>G GRCh37
NC_000007.12:g.117034006A>G NCBI36
NG_016465.4:g.145933A>G , LRG_663:g.145933A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2951A>G ENSP00000497673.2:p.Asp984Gly
ENST00000647978.2:c.*2665A>G ENSP00000497658.1:n.*2665A>G
ENST00000649781.2:c.2768A>G ENSP00000497203.1:p.Asp923Gly
ENST00000685018.2:c.2951A>G ENSP00000510194.2:p.Asp984Gly
ENST00000687278.2:c.2951A>G ENSP00000509593.2:p.Asp984Gly
ENST00000699585.1:c.2951A>G ENSP00000514456.1:p.Asp984Gly
ENST00000699598.1:c.2951A>G ENSP00000514467.1:p.Asp984Gly
ENST00000699599.1:c.2951A>G ENSP00000514468.1:p.Asp984Gly
ENST00000699600.1:c.2951A>G ENSP00000514469.1:p.Asp984Gly
ENST00000699601.1:c.*1251A>G ENSP00000514470.1:n.*1251A>G
ENST00000699602.1:c.2951A>G ENSP00000514471.1:p.Asp984Gly
ENST00000699604.1:c.*2775A>G ENSP00000514472.1:n.*2775A>G
ENST00000699605.1:c.2525A>G ENSP00000514473.1:p.Asp842Gly
ENST00000687278.1:c.542A>G ENSP00000509593.1:p.Asp181Gly
ENST00000003084.11:c.2951A>G MANE Select ENSP00000003084.6:p.Asp984Gly
ENST00000647720.1:c.601A>G
ENST00000648260.1:c.1733A>G ENSP00000497957.1:p.Asp578Gly
ENST00000649406.1:c.2768A>G ENSP00000497965.1:p.Asp923Gly
ENST00000649781.1:c.2768A>G ENSP00000497203.1:p.Asp923Gly
ENST00000003084.10:c.2951A>G ENSP00000003084.6:p.Asp984Gly
ENST00000426809.5:c.2861A>G ENSP00000389119.1:p.Asp954Gly
NM_000492.3:c.2951A>G , LRG_663t1:c.2951A>G NP_000483.3:p.Asp984Gly
XM_011515751.1:c.3041A>G XP_011514053.1:p.Asp1014Gly
XM_011515752.1:c.3041A>G XP_011514054.1:p.Asp1014Gly
XM_011515753.1:c.2708A>G XP_011514055.1:p.Asp903Gly
XM_011515754.1:c.2708A>G XP_011514056.1:p.Asp903Gly
NM_000492.4:c.2951A>G MANE Select NP_000483.3:p.Asp984Gly