Canonical Allele Identifier: CA368981367

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117232668C>G (hg19) ; chr7:g.117592614C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592614C>G , CM000669.2:g.117592614C>G	GRCh38
NC_000007.13:g.117232668C>G , CM000669.1:g.117232668C>G	GRCh37
NC_000007.12:g.117019904C>G	NCBI36
NG_016465.4:g.131831C>G , LRG_663:g.131831C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2447C>G	ENSP00000497673.2:p.Thr816Ser
ENST00000647978.2:c.*2161C>G	ENSP00000497658.1:n.*2161C>G
ENST00000649781.2:c.2264C>G	ENSP00000497203.1:p.Thr755Ser
ENST00000685018.2:c.2447C>G	ENSP00000510194.2:p.Thr816Ser
ENST00000687278.2:c.2447C>G	ENSP00000509593.2:p.Thr816Ser
ENST00000699585.1:c.2447C>G	ENSP00000514456.1:p.Thr816Ser
ENST00000699598.1:c.2447C>G	ENSP00000514467.1:p.Thr816Ser
ENST00000699599.1:c.2447C>G	ENSP00000514468.1:p.Thr816Ser
ENST00000699600.1:c.2447C>G	ENSP00000514469.1:p.Thr816Ser
ENST00000699601.1:c.*747C>G	ENSP00000514470.1:n.*747C>G
ENST00000699602.1:c.2447C>G	ENSP00000514471.1:p.Thr816Ser
ENST00000699604.1:c.*2271C>G	ENSP00000514472.1:n.*2271C>G
ENST00000699605.1:c.2021C>G	ENSP00000514473.1:p.Thr674Ser
ENST00000687278.1:c.38C>G	ENSP00000509593.1:p.Thr13Ser
ENST00000003084.11:c.2447C>G MANE Select	ENSP00000003084.6:p.Thr816Ser
ENST00000647720.1:c.97C>G
ENST00000647978.1:c.*2161C>G	ENSP00000497658.1:n.*2161C>G
ENST00000648260.1:c.1402-10212C>G	ENSP00000497957.1:n.1402-10212C>G
ENST00000649406.1:c.2264C>G	ENSP00000497965.1:p.Thr755Ser
ENST00000649781.1:c.2264C>G	ENSP00000497203.1:p.Thr755Ser
ENST00000003084.10:c.2447C>G	ENSP00000003084.6:p.Thr816Ser
ENST00000426809.5:c.2357C>G	ENSP00000389119.1:p.Thr786Ser
NM_000492.3:c.2447C>G , LRG_663t1:c.2447C>G	NP_000483.3:p.Thr816Ser
XM_011515751.1:c.2537C>G	XP_011514053.1:p.Thr846Ser
XM_011515752.1:c.2537C>G	XP_011514054.1:p.Thr846Ser
XM_011515753.1:c.2204C>G	XP_011514055.1:p.Thr735Ser
XM_011515754.1:c.2204C>G	XP_011514056.1:p.Thr735Ser
NM_000492.4:c.2447C>G MANE Select	NP_000483.3:p.Thr816Ser