Canonical Allele Identifier: CA368974665
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642484C>G , CM000669.2:g.117642484C>G GRCh38
NC_000007.13:g.117282538C>G , CM000669.1:g.117282538C>G GRCh37
NC_000007.12:g.117069774C>G NCBI36
NG_016465.4:g.181701C>G , LRG_663:g.181701C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3564C>G ENSP00000497673.2:p.Ile1188Met
ENST00000647978.2:c.*3478C>G ENSP00000497658.1:n.*3478C>G
ENST00000649781.2:c.3581C>G ENSP00000497203.1:p.Ser1194Ter
ENST00000685018.2:c.3764C>G ENSP00000510194.2:p.Ser1255Ter
ENST00000687278.2:c.*417C>G ENSP00000509593.2:n.*417C>G
ENST00000699585.1:c.3564C>G ENSP00000514456.1:p.Ile1188Met
ENST00000699598.1:c.3764C>G ENSP00000514467.1:p.Ser1255Ter
ENST00000699599.1:c.3764C>G ENSP00000514468.1:p.Ser1255Ter
ENST00000699600.1:c.*425C>G ENSP00000514469.1:n.*425C>G
ENST00000699601.1:c.*2139C>G ENSP00000514470.1:n.*2139C>G
ENST00000699602.1:c.3758C>G ENSP00000514471.1:p.Ser1253Ter
ENST00000699604.1:c.*3588C>G ENSP00000514472.1:n.*3588C>G
ENST00000699605.1:c.3338C>G ENSP00000514473.1:p.Ser1113Ter
ENST00000685018.1:c.512C>G ENSP00000510194.1:p.Ser171Ter
ENST00000687278.1:c.1551C>G ENSP00000509593.1:n.1551C>G
ENST00000689011.1:c.346C>G
ENST00000003084.11:c.3764C>G MANE Select ENSP00000003084.6:p.Ser1255Ter
ENST00000647720.1:c.1214C>G
ENST00000649781.1:c.3581C>G ENSP00000497203.1:p.Ser1194Ter
ENST00000003084.10:c.3764C>G ENSP00000003084.6:p.Ser1255Ter
ENST00000426809.5:c.3674C>G ENSP00000389119.1:p.Ser1225Ter
NM_000492.3:c.3764C>G , LRG_663t1:c.3764C>G NP_000483.3:p.Ser1255Ter
XM_011515751.1:c.3854C>G XP_011514053.1:p.Ser1285Ter
XM_011515752.1:c.3854C>G XP_011514054.1:p.Ser1285Ter
XM_011515753.1:c.3521C>G XP_011514055.1:p.Ser1174Ter
XM_011515754.1:c.3521C>G XP_011514056.1:p.Ser1174Ter
NM_000492.4:c.3764C>G MANE Select NP_000483.3:p.Ser1255Ter