Canonical Allele Identifier: CA368987372
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1796961
ClinVar RCV Id: RCV002435492
dbSNP Id: rs397508446

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603735A>G , CM000669.2:g.117603735A>G GRCh38
NC_000007.13:g.117243789A>G , CM000669.1:g.117243789A>G GRCh37
NC_000007.12:g.117031025A>G NCBI36
NG_016465.4:g.142952A>G , LRG_663:g.142952A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2861A>G ENSP00000497673.2:p.His954Arg
ENST00000647978.2:c.*2575A>G ENSP00000497658.1:n.*2575A>G
ENST00000649781.2:c.2678A>G ENSP00000497203.1:p.His893Arg
ENST00000685018.2:c.2861A>G ENSP00000510194.2:p.His954Arg
ENST00000687278.2:c.2861A>G ENSP00000509593.2:p.His954Arg
ENST00000699585.1:c.2861A>G ENSP00000514456.1:p.His954Arg
ENST00000699598.1:c.2861A>G ENSP00000514467.1:p.His954Arg
ENST00000699599.1:c.2861A>G ENSP00000514468.1:p.His954Arg
ENST00000699600.1:c.2861A>G ENSP00000514469.1:p.His954Arg
ENST00000699601.1:c.*1161A>G ENSP00000514470.1:n.*1161A>G
ENST00000699602.1:c.2861A>G ENSP00000514471.1:p.His954Arg
ENST00000699604.1:c.*2685A>G ENSP00000514472.1:n.*2685A>G
ENST00000699605.1:c.2435A>G ENSP00000514473.1:p.His812Arg
ENST00000687278.1:c.452A>G ENSP00000509593.1:p.His151Arg
ENST00000003084.11:c.2861A>G MANE Select ENSP00000003084.6:p.His954Arg
ENST00000647720.1:c.511A>G
ENST00000648260.1:c.1643A>G ENSP00000497957.1:p.His548Arg
ENST00000649406.1:c.2678A>G ENSP00000497965.1:p.His893Arg
ENST00000649781.1:c.2678A>G ENSP00000497203.1:p.His893Arg
ENST00000003084.10:c.2861A>G ENSP00000003084.6:p.His954Arg
ENST00000426809.5:c.2771A>G ENSP00000389119.1:p.His924Arg
NM_000492.3:c.2861A>G , LRG_663t1:c.2861A>G NP_000483.3:p.His954Arg
XM_011515751.1:c.2951A>G XP_011514053.1:p.His984Arg
XM_011515752.1:c.2951A>G XP_011514054.1:p.His984Arg
XM_011515753.1:c.2618A>G XP_011514055.1:p.His873Arg
XM_011515754.1:c.2618A>G XP_011514056.1:p.His873Arg
NM_000492.4:c.2861A>G MANE Select NP_000483.3:p.His954Arg