Canonical Allele Identifier: CA4451456
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 554320
ClinVar RCV Id: RCV000669933
dbSNP Id: rs397508555

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614655T>C , CM000669.2:g.117614655T>C GRCh38
NC_000007.13:g.117254709T>C , CM000669.1:g.117254709T>C GRCh37
NC_000007.12:g.117041945T>C NCBI36
NG_016465.4:g.153872T>C , LRG_663:g.153872T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3410T>C ENSP00000497673.2:p.Met1137Thr
ENST00000647978.2:c.*3124T>C ENSP00000497658.1:n.*3124T>C
ENST00000649781.2:c.3227T>C ENSP00000497203.1:p.Met1076Thr
ENST00000685018.2:c.3410T>C ENSP00000510194.2:p.Met1137Thr
ENST00000687278.2:c.3410T>C ENSP00000509593.2:p.Met1137Thr
ENST00000699585.1:c.3410T>C ENSP00000514456.1:p.Met1137Thr
ENST00000699598.1:c.3410T>C ENSP00000514467.1:p.Met1137Thr
ENST00000699599.1:c.3410T>C ENSP00000514468.1:p.Met1137Thr
ENST00000699600.1:c.3410T>C ENSP00000514469.1:p.Met1137Thr
ENST00000699601.1:c.*1785T>C ENSP00000514470.1:n.*1785T>C
ENST00000699602.1:c.3404T>C ENSP00000514471.1:p.Met1135Thr
ENST00000699604.1:c.*3234T>C ENSP00000514472.1:n.*3234T>C
ENST00000699605.1:c.2984T>C ENSP00000514473.1:p.Met995Thr
ENST00000685018.1:c.158T>C ENSP00000510194.1:p.Met53Thr
ENST00000687278.1:c.1001T>C ENSP00000509593.1:p.Met334Thr
ENST00000003084.11:c.3410T>C MANE Select ENSP00000003084.6:p.Met1137Thr
ENST00000647720.1:c.1060T>C
ENST00000648260.1:c.2192T>C ENSP00000497957.1:p.Met731Thr
ENST00000649406.1:c.3227T>C ENSP00000497965.1:p.Met1076Thr
ENST00000649781.1:c.3227T>C ENSP00000497203.1:p.Met1076Thr
ENST00000003084.10:c.3410T>C ENSP00000003084.6:p.Met1137Thr
ENST00000426809.5:c.3320T>C ENSP00000389119.1:p.Met1107Thr
ENST00000468795.1:c.235T>C
NM_000492.3:c.3410T>C , LRG_663t1:c.3410T>C NP_000483.3:p.Met1137Thr
XM_011515751.1:c.3500T>C XP_011514053.1:p.Met1167Thr
XM_011515752.1:c.3500T>C XP_011514054.1:p.Met1167Thr
XM_011515753.1:c.3167T>C XP_011514055.1:p.Met1056Thr
XM_011515754.1:c.3167T>C XP_011514056.1:p.Met1056Thr
NM_000492.4:c.3410T>C MANE Select NP_000483.3:p.Met1137Thr