Canonical Allele Identifier: CA368978257

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292933T>G (hg19) ; chr7:g.117652879T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652879T>G , CM000669.2:g.117652879T>G	GRCh38
NC_000007.13:g.117292933T>G , CM000669.1:g.117292933T>G	GRCh37
NC_000007.12:g.117080169T>G	NCBI36
NG_016465.4:g.192096T>G , LRG_663:g.192096T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*120T>G	ENSP00000497673.2:n.*120T>G
ENST00000647978.2:c.*3625T>G	ENSP00000497658.1:n.*3625T>G
ENST00000649781.2:c.3728T>G	ENSP00000497203.1:p.Leu1243Trp
ENST00000685018.2:c.*124T>G	ENSP00000510194.2:n.*124T>G
ENST00000687278.2:c.*564T>G	ENSP00000509593.2:n.*564T>G
ENST00000699585.1:c.*120T>G	ENSP00000514456.1:n.*120T>G
ENST00000699598.1:c.3911T>G	ENSP00000514467.1:p.Leu1304Trp
ENST00000699599.1:c.*124T>G	ENSP00000514468.1:n.*124T>G
ENST00000699600.1:c.*572T>G	ENSP00000514469.1:n.*572T>G
ENST00000699601.1:c.*2286T>G	ENSP00000514470.1:n.*2286T>G
ENST00000699602.1:c.3905T>G	ENSP00000514471.1:p.Leu1302Trp
ENST00000699604.1:c.*3735T>G	ENSP00000514472.1:n.*3735T>G
ENST00000699605.1:c.3485T>G	ENSP00000514473.1:p.Leu1162Trp
ENST00000699606.1:n.2079T>G
ENST00000685018.1:c.775T>G	ENSP00000510194.1:n.775T>G
ENST00000687278.1:c.1698T>G	ENSP00000509593.1:n.1698T>G
ENST00000689011.1:c.493T>G
ENST00000003084.11:c.3911T>G MANE Select	ENSP00000003084.6:p.Leu1304Trp
ENST00000647720.1:c.1361T>G
ENST00000649781.1:c.3728T>G	ENSP00000497203.1:p.Leu1243Trp
ENST00000003084.10:c.3911T>G	ENSP00000003084.6:p.Leu1304Trp
ENST00000426809.5:c.3821T>G	ENSP00000389119.1:p.Leu1274Trp
ENST00000600166.1:c.37T>G
NM_000492.3:c.3911T>G , LRG_663t1:c.3911T>G	NP_000483.3:p.Leu1304Trp
XM_011515751.1:c.4001T>G	XP_011514053.1:p.Leu1334Trp
XM_011515752.1:c.4001T>G	XP_011514054.1:p.Leu1334Trp
XM_011515753.1:c.3668T>G	XP_011514055.1:p.Leu1223Trp
XM_011515754.1:c.3668T>G	XP_011514056.1:p.Leu1223Trp
NM_000492.4:c.3911T>G MANE Select	NP_000483.3:p.Leu1304Trp