Canonical Allele Identifier: CA457227958
Gene: CFTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.117243694A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603640A>C , CM000669.2:g.117603640A>C GRCh38
NC_000007.13:g.117243694A>C , CM000669.1:g.117243694A>C GRCh37
NC_000007.12:g.117030930A>C NCBI36
NG_016465.4:g.142857A>C , LRG_663:g.142857A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2766A>C ENSP00000497673.2:p.Val922=
ENST00000647978.2:c.*2480A>C ENSP00000497658.1:n.*2480A>C
ENST00000649781.2:c.2583A>C ENSP00000497203.1:p.Val861=
ENST00000685018.2:c.2766A>C ENSP00000510194.2:p.Val922=
ENST00000687278.2:c.2766A>C ENSP00000509593.2:p.Val922=
ENST00000699585.1:c.2766A>C ENSP00000514456.1:p.Val922=
ENST00000699598.1:c.2766A>C ENSP00000514467.1:p.Val922=
ENST00000699599.1:c.2766A>C ENSP00000514468.1:p.Val922=
ENST00000699600.1:c.2766A>C ENSP00000514469.1:p.Val922=
ENST00000699601.1:c.*1066A>C ENSP00000514470.1:n.*1066A>C
ENST00000699602.1:c.2766A>C ENSP00000514471.1:p.Val922=
ENST00000699604.1:c.*2590A>C ENSP00000514472.1:n.*2590A>C
ENST00000699605.1:c.2340A>C ENSP00000514473.1:p.Val780=
ENST00000687278.1:c.357A>C ENSP00000509593.1:p.Val119=
ENST00000003084.11:c.2766A>C MANE Select ENSP00000003084.6:p.Val922=
ENST00000647720.1:c.416A>C
ENST00000648260.1:c.1548A>C ENSP00000497957.1:p.Val516=
ENST00000649406.1:c.2583A>C ENSP00000497965.1:p.Val861=
ENST00000649781.1:c.2583A>C ENSP00000497203.1:p.Val861=
ENST00000003084.10:c.2766A>C ENSP00000003084.6:p.Val922=
ENST00000426809.5:c.2676A>C ENSP00000389119.1:p.Val892=
NM_000492.3:c.2766A>C , LRG_663t1:c.2766A>C NP_000483.3:p.Val922=
XM_011515751.1:c.2856A>C XP_011514053.1:p.Val952=
XM_011515752.1:c.2856A>C XP_011514054.1:p.Val952=
XM_011515753.1:c.2523A>C XP_011514055.1:p.Val841=
XM_011515754.1:c.2523A>C XP_011514056.1:p.Val841=
NM_000492.4:c.2766A>C MANE Select NP_000483.3:p.Val922=