Canonical Allele Identifier: CA501096
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs746000445

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610541C>G , CM000669.2:g.117610541C>G GRCh38
NC_000007.13:g.117250595C>G , CM000669.1:g.117250595C>G GRCh37
NC_000007.12:g.117037831C>G NCBI36
NG_016465.4:g.149758C>G , LRG_663:g.149758C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3011C>G ENSP00000497673.2:p.Ala1004Gly
ENST00000647978.2:c.*2725C>G ENSP00000497658.1:n.*2725C>G
ENST00000649781.2:c.2828C>G ENSP00000497203.1:p.Ala943Gly
ENST00000685018.2:c.3011C>G ENSP00000510194.2:p.Ala1004Gly
ENST00000687278.2:c.3011C>G ENSP00000509593.2:p.Ala1004Gly
ENST00000699585.1:c.3011C>G ENSP00000514456.1:p.Ala1004Gly
ENST00000699598.1:c.3011C>G ENSP00000514467.1:p.Ala1004Gly
ENST00000699599.1:c.3011C>G ENSP00000514468.1:p.Ala1004Gly
ENST00000699600.1:c.3011C>G ENSP00000514469.1:p.Ala1004Gly
ENST00000699601.1:c.*1311C>G ENSP00000514470.1:n.*1311C>G
ENST00000699602.1:c.3011C>G ENSP00000514471.1:p.Ala1004Gly
ENST00000699604.1:c.*2835C>G ENSP00000514472.1:n.*2835C>G
ENST00000699605.1:c.2585C>G ENSP00000514473.1:p.Ala862Gly
ENST00000687278.1:c.602C>G ENSP00000509593.1:p.Ala201Gly
ENST00000003084.11:c.3011C>G MANE Select ENSP00000003084.6:p.Ala1004Gly
ENST00000647720.1:c.661C>G
ENST00000648260.1:c.1793C>G ENSP00000497957.1:p.Ala598Gly
ENST00000649406.1:c.2828C>G ENSP00000497965.1:p.Ala943Gly
ENST00000649781.1:c.2828C>G ENSP00000497203.1:p.Ala943Gly
ENST00000003084.10:c.3011C>G ENSP00000003084.6:p.Ala1004Gly
ENST00000426809.5:c.2921C>G ENSP00000389119.1:p.Ala974Gly
NM_000492.3:c.3011C>G , LRG_663t1:c.3011C>G NP_000483.3:p.Ala1004Gly
XM_011515751.1:c.3101C>G XP_011514053.1:p.Ala1034Gly
XM_011515752.1:c.3101C>G XP_011514054.1:p.Ala1034Gly
XM_011515753.1:c.2768C>G XP_011514055.1:p.Ala923Gly
XM_011515754.1:c.2768C>G XP_011514056.1:p.Ala923Gly
NM_000492.4:c.3011C>G MANE Select NP_000483.3:p.Ala1004Gly