Canonical Allele Identifier: CA368987448
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603747A>G , CM000669.2:g.117603747A>G GRCh38
NC_000007.13:g.117243801A>G , CM000669.1:g.117243801A>G GRCh37
NC_000007.12:g.117031037A>G NCBI36
NG_016465.4:g.142964A>G , LRG_663:g.142964A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2873A>G ENSP00000497673.2:p.Gln958Arg
ENST00000647978.2:c.*2587A>G ENSP00000497658.1:n.*2587A>G
ENST00000649781.2:c.2690A>G ENSP00000497203.1:p.Gln897Arg
ENST00000685018.2:c.2873A>G ENSP00000510194.2:p.Gln958Arg
ENST00000687278.2:c.2873A>G ENSP00000509593.2:p.Gln958Arg
ENST00000699585.1:c.2873A>G ENSP00000514456.1:p.Gln958Arg
ENST00000699598.1:c.2873A>G ENSP00000514467.1:p.Gln958Arg
ENST00000699599.1:c.2873A>G ENSP00000514468.1:p.Gln958Arg
ENST00000699600.1:c.2873A>G ENSP00000514469.1:p.Gln958Arg
ENST00000699601.1:c.*1173A>G ENSP00000514470.1:n.*1173A>G
ENST00000699602.1:c.2873A>G ENSP00000514471.1:p.Gln958Arg
ENST00000699604.1:c.*2697A>G ENSP00000514472.1:n.*2697A>G
ENST00000699605.1:c.2447A>G ENSP00000514473.1:p.Gln816Arg
ENST00000687278.1:c.464A>G ENSP00000509593.1:p.Gln155Arg
ENST00000003084.11:c.2873A>G MANE Select ENSP00000003084.6:p.Gln958Arg
ENST00000647720.1:c.523A>G
ENST00000648260.1:c.1655A>G ENSP00000497957.1:p.Gln552Arg
ENST00000649406.1:c.2690A>G ENSP00000497965.1:p.Gln897Arg
ENST00000649781.1:c.2690A>G ENSP00000497203.1:p.Gln897Arg
ENST00000003084.10:c.2873A>G ENSP00000003084.6:p.Gln958Arg
ENST00000426809.5:c.2783A>G ENSP00000389119.1:p.Gln928Arg
NM_000492.3:c.2873A>G , LRG_663t1:c.2873A>G NP_000483.3:p.Gln958Arg
XM_011515751.1:c.2963A>G XP_011514053.1:p.Gln988Arg
XM_011515752.1:c.2963A>G XP_011514054.1:p.Gln988Arg
XM_011515753.1:c.2630A>G XP_011514055.1:p.Gln877Arg
XM_011515754.1:c.2630A>G XP_011514056.1:p.Gln877Arg
NM_000492.4:c.2873A>G MANE Select NP_000483.3:p.Gln958Arg