Canonical Allele Identifier: CA368997275

Gene: CFTR

Linked Data

• dbSNP Id: rs397508591
• gnomAD v3: 7-117627687-G-T
• gnomAD v4: 7-117627687-G-T
• MyVariant Identifiers: chr7:g.117267741G>T (hg19) ; chr7:g.117627687G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627687G>T , CM000669.2:g.117627687G>T	GRCh38
NC_000007.13:g.117267741G>T , CM000669.1:g.117267741G>T	GRCh37
NC_000007.12:g.117054977G>T	NCBI36
NG_016465.4:g.166904G>T , LRG_663:g.166904G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+117G>T	ENSP00000497673.2:n.3517+117G>T
ENST00000647978.2:c.*3348G>T	ENSP00000497658.1:n.*3348G>T
ENST00000649781.2:c.3451G>T	ENSP00000497203.1:p.Val1151Phe
ENST00000685018.2:c.3634G>T	ENSP00000510194.2:p.Val1212Phe
ENST00000687278.2:c.*287G>T	ENSP00000509593.2:n.*287G>T
ENST00000699585.1:c.3517+117G>T	ENSP00000514456.1:n.3517+117G>T
ENST00000699598.1:c.3634G>T	ENSP00000514467.1:p.Val1212Phe
ENST00000699599.1:c.3634G>T	ENSP00000514468.1:p.Val1212Phe
ENST00000699600.1:c.*295G>T	ENSP00000514469.1:n.*295G>T
ENST00000699601.1:c.*2009G>T	ENSP00000514470.1:n.*2009G>T
ENST00000699602.1:c.3628G>T	ENSP00000514471.1:p.Val1210Phe
ENST00000699604.1:c.*3458G>T	ENSP00000514472.1:n.*3458G>T
ENST00000699605.1:c.3208G>T	ENSP00000514473.1:p.Val1070Phe
ENST00000685018.1:c.382G>T	ENSP00000510194.1:p.Val128Phe
ENST00000687278.1:c.1421G>T	ENSP00000509593.1:n.1421G>T
ENST00000689011.1:c.216G>T
ENST00000003084.11:c.3634G>T MANE Select	ENSP00000003084.6:p.Val1212Phe
ENST00000647720.1:c.1167+117G>T
ENST00000648260.1:c.2416G>T	ENSP00000497957.1:p.Val806Phe
ENST00000649406.1:c.3451G>T	ENSP00000497965.1:p.Val1151Phe
ENST00000649781.1:c.3451G>T	ENSP00000497203.1:p.Val1151Phe
ENST00000003084.10:c.3634G>T	ENSP00000003084.6:p.Val1212Phe
ENST00000426809.5:c.3544G>T	ENSP00000389119.1:p.Val1182Phe
ENST00000468795.1:c.459G>T
NM_000492.3:c.3634G>T , LRG_663t1:c.3634G>T	NP_000483.3:p.Val1212Phe
XM_011515751.1:c.3724G>T	XP_011514053.1:p.Val1242Phe
XM_011515752.1:c.3724G>T	XP_011514054.1:p.Val1242Phe
XM_011515753.1:c.3391G>T	XP_011514055.1:p.Val1131Phe
XM_011515754.1:c.3391G>T	XP_011514056.1:p.Val1131Phe
NM_000492.4:c.3634G>T MANE Select	NP_000483.3:p.Val1212Phe