Canonical Allele Identifier: CA368983951

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117235051T>G (hg19) ; chr7:g.117594997T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117594997T>G , CM000669.2:g.117594997T>G	GRCh38
NC_000007.13:g.117235051T>G , CM000669.1:g.117235051T>G	GRCh37
NC_000007.12:g.117022287T>G	NCBI36
NG_016465.4:g.134214T>G , LRG_663:g.134214T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2558T>G	ENSP00000497673.2:p.Ile853Ser
ENST00000647978.2:c.*2272T>G	ENSP00000497658.1:n.*2272T>G
ENST00000649781.2:c.2375T>G	ENSP00000497203.1:p.Ile792Ser
ENST00000685018.2:c.2558T>G	ENSP00000510194.2:p.Ile853Ser
ENST00000687278.2:c.2558T>G	ENSP00000509593.2:p.Ile853Ser
ENST00000699585.1:c.2558T>G	ENSP00000514456.1:p.Ile853Ser
ENST00000699598.1:c.2558T>G	ENSP00000514467.1:p.Ile853Ser
ENST00000699599.1:c.2558T>G	ENSP00000514468.1:p.Ile853Ser
ENST00000699600.1:c.2558T>G	ENSP00000514469.1:p.Ile853Ser
ENST00000699601.1:c.*858T>G	ENSP00000514470.1:n.*858T>G
ENST00000699602.1:c.2558T>G	ENSP00000514471.1:p.Ile853Ser
ENST00000699604.1:c.*2382T>G	ENSP00000514472.1:n.*2382T>G
ENST00000699605.1:c.2132T>G	ENSP00000514473.1:p.Ile711Ser
ENST00000687278.1:c.149T>G	ENSP00000509593.1:p.Ile50Ser
ENST00000003084.11:c.2558T>G MANE Select	ENSP00000003084.6:p.Ile853Ser
ENST00000647720.1:c.208T>G
ENST00000648260.1:c.1402-7829T>G	ENSP00000497957.1:n.1402-7829T>G
ENST00000649406.1:c.2375T>G	ENSP00000497965.1:p.Ile792Ser
ENST00000649781.1:c.2375T>G	ENSP00000497203.1:p.Ile792Ser
ENST00000003084.10:c.2558T>G	ENSP00000003084.6:p.Ile853Ser
ENST00000426809.5:c.2468T>G	ENSP00000389119.1:p.Ile823Ser
NM_000492.3:c.2558T>G , LRG_663t1:c.2558T>G	NP_000483.3:p.Ile853Ser
XM_011515751.1:c.2648T>G	XP_011514053.1:p.Ile883Ser
XM_011515752.1:c.2648T>G	XP_011514054.1:p.Ile883Ser
XM_011515753.1:c.2315T>G	XP_011514055.1:p.Ile772Ser
XM_011515754.1:c.2315T>G	XP_011514056.1:p.Ile772Ser
NM_000492.4:c.2558T>G MANE Select	NP_000483.3:p.Ile853Ser