Canonical Allele Identifier: CA457229375
Gene: CFTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.117250614T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610560T>A , CM000669.2:g.117610560T>A GRCh38
NC_000007.13:g.117250614T>A , CM000669.1:g.117250614T>A GRCh37
NC_000007.12:g.117037850T>A NCBI36
NG_016465.4:g.149777T>A , LRG_663:g.149777T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3030T>A ENSP00000497673.2:p.Val1010=
ENST00000647978.2:c.*2744T>A ENSP00000497658.1:n.*2744T>A
ENST00000649781.2:c.2847T>A ENSP00000497203.1:p.Val949=
ENST00000685018.2:c.3030T>A ENSP00000510194.2:p.Val1010=
ENST00000687278.2:c.3030T>A ENSP00000509593.2:p.Val1010=
ENST00000699585.1:c.3030T>A ENSP00000514456.1:p.Val1010=
ENST00000699598.1:c.3030T>A ENSP00000514467.1:p.Val1010=
ENST00000699599.1:c.3030T>A ENSP00000514468.1:p.Val1010=
ENST00000699600.1:c.3030T>A ENSP00000514469.1:p.Val1010=
ENST00000699601.1:c.*1330T>A ENSP00000514470.1:n.*1330T>A
ENST00000699602.1:c.3030T>A ENSP00000514471.1:p.Val1010=
ENST00000699604.1:c.*2854T>A ENSP00000514472.1:n.*2854T>A
ENST00000699605.1:c.2604T>A ENSP00000514473.1:p.Val868=
ENST00000687278.1:c.621T>A ENSP00000509593.1:p.Val207=
ENST00000003084.11:c.3030T>A MANE Select ENSP00000003084.6:p.Val1010=
ENST00000647720.1:c.680T>A
ENST00000648260.1:c.1812T>A ENSP00000497957.1:p.Val604=
ENST00000649406.1:c.2847T>A ENSP00000497965.1:p.Val949=
ENST00000649781.1:c.2847T>A ENSP00000497203.1:p.Val949=
ENST00000003084.10:c.3030T>A ENSP00000003084.6:p.Val1010=
ENST00000426809.5:c.2940T>A ENSP00000389119.1:p.Val980=
NM_000492.3:c.3030T>A , LRG_663t1:c.3030T>A NP_000483.3:p.Val1010=
XM_011515751.1:c.3120T>A XP_011514053.1:p.Val1040=
XM_011515752.1:c.3120T>A XP_011514054.1:p.Val1040=
XM_011515753.1:c.2787T>A XP_011514055.1:p.Val929=
XM_011515754.1:c.2787T>A XP_011514056.1:p.Val929=
NM_000492.4:c.3030T>A MANE Select NP_000483.3:p.Val1010=