Canonical Allele Identifier: CA368997263

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267738A>C (hg19) ; chr7:g.117627684A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627684A>C , CM000669.2:g.117627684A>C	GRCh38
NC_000007.13:g.117267738A>C , CM000669.1:g.117267738A>C	GRCh37
NC_000007.12:g.117054974A>C	NCBI36
NG_016465.4:g.166901A>C , LRG_663:g.166901A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+114A>C	ENSP00000497673.2:n.3517+114A>C
ENST00000647978.2:c.*3345A>C	ENSP00000497658.1:n.*3345A>C
ENST00000649781.2:c.3448A>C	ENSP00000497203.1:p.Thr1150Pro
ENST00000685018.2:c.3631A>C	ENSP00000510194.2:p.Thr1211Pro
ENST00000687278.2:c.*284A>C	ENSP00000509593.2:n.*284A>C
ENST00000699585.1:c.3517+114A>C	ENSP00000514456.1:n.3517+114A>C
ENST00000699598.1:c.3631A>C	ENSP00000514467.1:p.Thr1211Pro
ENST00000699599.1:c.3631A>C	ENSP00000514468.1:p.Thr1211Pro
ENST00000699600.1:c.*292A>C	ENSP00000514469.1:n.*292A>C
ENST00000699601.1:c.*2006A>C	ENSP00000514470.1:n.*2006A>C
ENST00000699602.1:c.3625A>C	ENSP00000514471.1:p.Thr1209Pro
ENST00000699604.1:c.*3455A>C	ENSP00000514472.1:n.*3455A>C
ENST00000699605.1:c.3205A>C	ENSP00000514473.1:p.Thr1069Pro
ENST00000685018.1:c.379A>C	ENSP00000510194.1:p.Thr127Pro
ENST00000687278.1:c.1418A>C	ENSP00000509593.1:n.1418A>C
ENST00000689011.1:c.213A>C
ENST00000003084.11:c.3631A>C MANE Select	ENSP00000003084.6:p.Thr1211Pro
ENST00000647720.1:c.1167+114A>C
ENST00000648260.1:c.2413A>C	ENSP00000497957.1:p.Thr805Pro
ENST00000649406.1:c.3448A>C	ENSP00000497965.1:p.Thr1150Pro
ENST00000649781.1:c.3448A>C	ENSP00000497203.1:p.Thr1150Pro
ENST00000003084.10:c.3631A>C	ENSP00000003084.6:p.Thr1211Pro
ENST00000426809.5:c.3541A>C	ENSP00000389119.1:p.Thr1181Pro
ENST00000468795.1:c.456A>C
NM_000492.3:c.3631A>C , LRG_663t1:c.3631A>C	NP_000483.3:p.Thr1211Pro
XM_011515751.1:c.3721A>C	XP_011514053.1:p.Thr1241Pro
XM_011515752.1:c.3721A>C	XP_011514054.1:p.Thr1241Pro
XM_011515753.1:c.3388A>C	XP_011514055.1:p.Thr1130Pro
XM_011515754.1:c.3388A>C	XP_011514056.1:p.Thr1130Pro
NM_000492.4:c.3631A>C MANE Select	NP_000483.3:p.Thr1211Pro