Canonical Allele Identifier: CA368977931

Gene: CFTR

Linked Data

• gnomAD v4: 7-117652851-A-G
• MyVariant Identifiers: chr7:g.117292905A>G (hg19) ; chr7:g.117652851A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652851A>G , CM000669.2:g.117652851A>G	GRCh38
NC_000007.13:g.117292905A>G , CM000669.1:g.117292905A>G	GRCh37
NC_000007.12:g.117080141A>G	NCBI36
NG_016465.4:g.192068A>G , LRG_663:g.192068A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*92A>G	ENSP00000497673.2:n.*92A>G
ENST00000647978.2:c.*3597A>G	ENSP00000497658.1:n.*3597A>G
ENST00000649781.2:c.3700A>G	ENSP00000497203.1:p.Ile1234Val
ENST00000685018.2:c.*96A>G	ENSP00000510194.2:n.*96A>G
ENST00000687278.2:c.*536A>G	ENSP00000509593.2:n.*536A>G
ENST00000699585.1:c.*92A>G	ENSP00000514456.1:n.*92A>G
ENST00000699598.1:c.3883A>G	ENSP00000514467.1:p.Ile1295Val
ENST00000699599.1:c.*96A>G	ENSP00000514468.1:n.*96A>G
ENST00000699600.1:c.*544A>G	ENSP00000514469.1:n.*544A>G
ENST00000699601.1:c.*2258A>G	ENSP00000514470.1:n.*2258A>G
ENST00000699602.1:c.3877A>G	ENSP00000514471.1:p.Ile1293Val
ENST00000699604.1:c.*3707A>G	ENSP00000514472.1:n.*3707A>G
ENST00000699605.1:c.3457A>G	ENSP00000514473.1:p.Ile1153Val
ENST00000699606.1:n.2051A>G
ENST00000685018.1:c.747A>G	ENSP00000510194.1:n.747A>G
ENST00000687278.1:c.1670A>G	ENSP00000509593.1:n.1670A>G
ENST00000689011.1:c.465A>G
ENST00000003084.11:c.3883A>G MANE Select	ENSP00000003084.6:p.Ile1295Val
ENST00000647720.1:c.1333A>G
ENST00000649781.1:c.3700A>G	ENSP00000497203.1:p.Ile1234Val
ENST00000003084.10:c.3883A>G	ENSP00000003084.6:p.Ile1295Val
ENST00000426809.5:c.3793A>G	ENSP00000389119.1:p.Ile1265Val
ENST00000600166.1:c.9A>G
NM_000492.3:c.3883A>G , LRG_663t1:c.3883A>G	NP_000483.3:p.Ile1295Val
XM_011515751.1:c.3973A>G	XP_011514053.1:p.Ile1325Val
XM_011515752.1:c.3973A>G	XP_011514054.1:p.Ile1325Val
XM_011515753.1:c.3640A>G	XP_011514055.1:p.Ile1214Val
XM_011515754.1:c.3640A>G	XP_011514056.1:p.Ile1214Val
NM_000492.4:c.3883A>G MANE Select	NP_000483.3:p.Ile1295Val