Canonical Allele Identifier: CA368992507
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 837480
dbSNP Id: rs1792392768

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117611756G>T , CM000669.2:g.117611756G>T GRCh38
NC_000007.13:g.117251810G>T , CM000669.1:g.117251810G>T GRCh37
NC_000007.12:g.117039046G>T NCBI36
NG_016465.4:g.150973G>T , LRG_663:g.150973G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3315G>T ENSP00000497673.2:p.Met1105Ile
ENST00000647978.2:c.*3029G>T ENSP00000497658.1:n.*3029G>T
ENST00000649781.2:c.3132G>T ENSP00000497203.1:p.Met1044Ile
ENST00000685018.2:c.3315G>T ENSP00000510194.2:p.Met1105Ile
ENST00000687278.2:c.3315G>T ENSP00000509593.2:p.Met1105Ile
ENST00000699585.1:c.3315G>T ENSP00000514456.1:p.Met1105Ile
ENST00000699598.1:c.3315G>T ENSP00000514467.1:p.Met1105Ile
ENST00000699599.1:c.3315G>T ENSP00000514468.1:p.Met1105Ile
ENST00000699600.1:c.3315G>T ENSP00000514469.1:p.Met1105Ile
ENST00000699601.1:c.*1615G>T ENSP00000514470.1:n.*1615G>T
ENST00000699602.1:c.3315G>T ENSP00000514471.1:p.Met1105Ile
ENST00000699604.1:c.*3139G>T ENSP00000514472.1:n.*3139G>T
ENST00000699605.1:c.2889G>T ENSP00000514473.1:p.Met963Ile
ENST00000685018.1:c.63G>T ENSP00000510194.1:p.Met21Ile
ENST00000687278.1:c.906G>T ENSP00000509593.1:p.Met302Ile
ENST00000003084.11:c.3315G>T MANE Select ENSP00000003084.6:p.Met1105Ile
ENST00000647720.1:c.965G>T
ENST00000648260.1:c.2097G>T ENSP00000497957.1:p.Met699Ile
ENST00000649406.1:c.3132G>T ENSP00000497965.1:p.Met1044Ile
ENST00000649781.1:c.3132G>T ENSP00000497203.1:p.Met1044Ile
ENST00000003084.10:c.3315G>T ENSP00000003084.6:p.Met1105Ile
ENST00000426809.5:c.3225G>T ENSP00000389119.1:p.Met1075Ile
ENST00000468795.1:c.140G>T
NM_000492.3:c.3315G>T , LRG_663t1:c.3315G>T NP_000483.3:p.Met1105Ile
XM_011515751.1:c.3405G>T XP_011514053.1:p.Met1135Ile
XM_011515752.1:c.3405G>T XP_011514054.1:p.Met1135Ile
XM_011515753.1:c.3072G>T XP_011514055.1:p.Met1024Ile
XM_011515754.1:c.3072G>T XP_011514056.1:p.Met1024Ile
NM_000492.4:c.3315G>T MANE Select NP_000483.3:p.Met1105Ile