Canonical Allele Identifier: CA457229386
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1562914129
MyVariant Identifiers: chr7:g.117250623C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610569C>T , CM000669.2:g.117610569C>T GRCh38
NC_000007.13:g.117250623C>T , CM000669.1:g.117250623C>T GRCh37
NC_000007.12:g.117037859C>T NCBI36
NG_016465.4:g.149786C>T , LRG_663:g.149786C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3039C>T ENSP00000497673.2:p.Pro1013=
ENST00000647978.2:c.*2753C>T ENSP00000497658.1:n.*2753C>T
ENST00000649781.2:c.2856C>T ENSP00000497203.1:p.Pro952=
ENST00000685018.2:c.3039C>T ENSP00000510194.2:p.Pro1013=
ENST00000687278.2:c.3039C>T ENSP00000509593.2:p.Pro1013=
ENST00000699585.1:c.3039C>T ENSP00000514456.1:p.Pro1013=
ENST00000699598.1:c.3039C>T ENSP00000514467.1:p.Pro1013=
ENST00000699599.1:c.3039C>T ENSP00000514468.1:p.Pro1013=
ENST00000699600.1:c.3039C>T ENSP00000514469.1:p.Pro1013=
ENST00000699601.1:c.*1339C>T ENSP00000514470.1:n.*1339C>T
ENST00000699602.1:c.3039C>T ENSP00000514471.1:p.Pro1013=
ENST00000699604.1:c.*2863C>T ENSP00000514472.1:n.*2863C>T
ENST00000699605.1:c.2613C>T ENSP00000514473.1:p.Pro871=
ENST00000687278.1:c.630C>T ENSP00000509593.1:p.Pro210=
ENST00000003084.11:c.3039C>T MANE Select ENSP00000003084.6:p.Pro1013=
ENST00000647720.1:c.689C>T
ENST00000648260.1:c.1821C>T ENSP00000497957.1:p.Pro607=
ENST00000649406.1:c.2856C>T ENSP00000497965.1:p.Pro952=
ENST00000649781.1:c.2856C>T ENSP00000497203.1:p.Pro952=
ENST00000003084.10:c.3039C>T ENSP00000003084.6:p.Pro1013=
ENST00000426809.5:c.2949C>T ENSP00000389119.1:p.Pro983=
NM_000492.3:c.3039C>T , LRG_663t1:c.3039C>T NP_000483.3:p.Pro1013=
XM_011515751.1:c.3129C>T XP_011514053.1:p.Pro1043=
XM_011515752.1:c.3129C>T XP_011514054.1:p.Pro1043=
XM_011515753.1:c.2796C>T XP_011514055.1:p.Pro932=
XM_011515754.1:c.2796C>T XP_011514056.1:p.Pro932=
NM_000492.4:c.3039C>T MANE Select NP_000483.3:p.Pro1013=