Canonical Allele Identifier: CA368983323

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305517T>G (hg19) ; chr7:g.117665463T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665463T>G , CM000669.2:g.117665463T>G	GRCh38
NC_000007.13:g.117305517T>G , CM000669.1:g.117305517T>G	GRCh37
NC_000007.12:g.117092753T>G	NCBI36
NG_016465.4:g.204680T>G , LRG_663:g.204680T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*350T>G	ENSP00000497673.2:n.*350T>G
ENST00000647978.2:c.*3855T>G	ENSP00000497658.1:n.*3855T>G
ENST00000649781.2:c.3958T>G	ENSP00000497203.1:p.Tyr1320Asp
ENST00000685018.2:c.*354T>G	ENSP00000510194.2:n.*354T>G
ENST00000687278.2:c.*794T>G	ENSP00000509593.2:n.*794T>G
ENST00000699585.1:c.*350T>G	ENSP00000514456.1:n.*350T>G
ENST00000699598.1:c.4141T>G	ENSP00000514467.1:p.Tyr1381Asp
ENST00000699599.1:c.*354T>G	ENSP00000514468.1:n.*354T>G
ENST00000699600.1:c.*802T>G	ENSP00000514469.1:n.*802T>G
ENST00000699601.1:c.*2516T>G	ENSP00000514470.1:n.*2516T>G
ENST00000699602.1:c.4135T>G	ENSP00000514471.1:p.Tyr1379Asp
ENST00000699604.1:c.*3965T>G	ENSP00000514472.1:n.*3965T>G
ENST00000699605.1:c.3715T>G	ENSP00000514473.1:p.Tyr1239Asp
ENST00000699606.1:n.2309T>G
ENST00000685018.1:c.1005T>G	ENSP00000510194.1:n.1005T>G
ENST00000687278.1:c.1928T>G	ENSP00000509593.1:n.1928T>G
ENST00000689011.1:c.723T>G
ENST00000003084.11:c.4141T>G MANE Select	ENSP00000003084.6:p.Tyr1381Asp
ENST00000647720.1:c.1591T>G
ENST00000649781.1:c.3958T>G	ENSP00000497203.1:p.Tyr1320Asp
ENST00000003084.10:c.4141T>G	ENSP00000003084.6:p.Tyr1381Asp
ENST00000426809.5:c.4051T>G	ENSP00000389119.1:p.Tyr1351Asp
ENST00000600166.1:c.267T>G
NM_000492.3:c.4141T>G , LRG_663t1:c.4141T>G	NP_000483.3:p.Tyr1381Asp
XM_011515751.1:c.4231T>G	XP_011514053.1:p.Tyr1411Asp
XM_011515752.1:c.4231T>G	XP_011514054.1:p.Tyr1411Asp
XM_011515753.1:c.3898T>G	XP_011514055.1:p.Tyr1300Asp
XM_011515754.1:c.3898T>G	XP_011514056.1:p.Tyr1300Asp
NM_000492.4:c.4141T>G MANE Select	NP_000483.3:p.Tyr1381Asp