Canonical Allele Identifier: CA368996329

Gene: CFTR

Linked Data

• gnomAD v4: 7-117627595-C-G
• MyVariant Identifiers: chr7:g.117267649C>G (hg19) ; chr7:g.117627595C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627595C>G , CM000669.2:g.117627595C>G	GRCh38
NC_000007.13:g.117267649C>G , CM000669.1:g.117267649C>G	GRCh37
NC_000007.12:g.117054885C>G	NCBI36
NG_016465.4:g.166812C>G , LRG_663:g.166812C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+25C>G	ENSP00000497673.2:n.3517+25C>G
ENST00000647978.2:c.*3256C>G	ENSP00000497658.1:n.*3256C>G
ENST00000649781.2:c.3359C>G	ENSP00000497203.1:p.Pro1120Arg
ENST00000685018.2:c.3542C>G	ENSP00000510194.2:p.Pro1181Arg
ENST00000687278.2:c.*195C>G	ENSP00000509593.2:n.*195C>G
ENST00000699585.1:c.3517+25C>G	ENSP00000514456.1:n.3517+25C>G
ENST00000699598.1:c.3542C>G	ENSP00000514467.1:p.Pro1181Arg
ENST00000699599.1:c.3542C>G	ENSP00000514468.1:p.Pro1181Arg
ENST00000699600.1:c.*203C>G	ENSP00000514469.1:n.*203C>G
ENST00000699601.1:c.*1917C>G	ENSP00000514470.1:n.*1917C>G
ENST00000699602.1:c.3536C>G	ENSP00000514471.1:p.Pro1179Arg
ENST00000699604.1:c.*3366C>G	ENSP00000514472.1:n.*3366C>G
ENST00000699605.1:c.3116C>G	ENSP00000514473.1:p.Pro1039Arg
ENST00000685018.1:c.290C>G	ENSP00000510194.1:p.Pro97Arg
ENST00000687278.1:c.1329C>G	ENSP00000509593.1:n.1329C>G
ENST00000689011.1:c.124C>G
ENST00000003084.11:c.3542C>G MANE Select	ENSP00000003084.6:p.Pro1181Arg
ENST00000647720.1:c.1167+25C>G
ENST00000648260.1:c.2324C>G	ENSP00000497957.1:p.Pro775Arg
ENST00000649406.1:c.3359C>G	ENSP00000497965.1:p.Pro1120Arg
ENST00000649781.1:c.3359C>G	ENSP00000497203.1:p.Pro1120Arg
ENST00000003084.10:c.3542C>G	ENSP00000003084.6:p.Pro1181Arg
ENST00000426809.5:c.3452C>G	ENSP00000389119.1:p.Pro1151Arg
ENST00000468795.1:c.367C>G
NM_000492.3:c.3542C>G , LRG_663t1:c.3542C>G	NP_000483.3:p.Pro1181Arg
XM_011515751.1:c.3632C>G	XP_011514053.1:p.Pro1211Arg
XM_011515752.1:c.3632C>G	XP_011514054.1:p.Pro1211Arg
XM_011515753.1:c.3299C>G	XP_011514055.1:p.Pro1100Arg
XM_011515754.1:c.3299C>G	XP_011514056.1:p.Pro1100Arg
NM_000492.4:c.3542C>G MANE Select	NP_000483.3:p.Pro1181Arg