Canonical Allele Identifier: CA368997174

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267718G>C (hg19) ; chr7:g.117627664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627664G>C , CM000669.2:g.117627664G>C	GRCh38
NC_000007.13:g.117267718G>C , CM000669.1:g.117267718G>C	GRCh37
NC_000007.12:g.117054954G>C	NCBI36
NG_016465.4:g.166881G>C , LRG_663:g.166881G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+94G>C	ENSP00000497673.2:n.3517+94G>C
ENST00000647978.2:c.*3325G>C	ENSP00000497658.1:n.*3325G>C
ENST00000649781.2:c.3428G>C	ENSP00000497203.1:p.Trp1143Ser
ENST00000685018.2:c.3611G>C	ENSP00000510194.2:p.Trp1204Ser
ENST00000687278.2:c.*264G>C	ENSP00000509593.2:n.*264G>C
ENST00000699585.1:c.3517+94G>C	ENSP00000514456.1:n.3517+94G>C
ENST00000699598.1:c.3611G>C	ENSP00000514467.1:p.Trp1204Ser
ENST00000699599.1:c.3611G>C	ENSP00000514468.1:p.Trp1204Ser
ENST00000699600.1:c.*272G>C	ENSP00000514469.1:n.*272G>C
ENST00000699601.1:c.*1986G>C	ENSP00000514470.1:n.*1986G>C
ENST00000699602.1:c.3605G>C	ENSP00000514471.1:p.Trp1202Ser
ENST00000699604.1:c.*3435G>C	ENSP00000514472.1:n.*3435G>C
ENST00000699605.1:c.3185G>C	ENSP00000514473.1:p.Trp1062Ser
ENST00000685018.1:c.359G>C	ENSP00000510194.1:p.Trp120Ser
ENST00000687278.1:c.1398G>C	ENSP00000509593.1:n.1398G>C
ENST00000689011.1:c.193G>C
ENST00000003084.11:c.3611G>C MANE Select	ENSP00000003084.6:p.Trp1204Ser
ENST00000647720.1:c.1167+94G>C
ENST00000648260.1:c.2393G>C	ENSP00000497957.1:p.Trp798Ser
ENST00000649406.1:c.3428G>C	ENSP00000497965.1:p.Trp1143Ser
ENST00000649781.1:c.3428G>C	ENSP00000497203.1:p.Trp1143Ser
ENST00000003084.10:c.3611G>C	ENSP00000003084.6:p.Trp1204Ser
ENST00000426809.5:c.3521G>C	ENSP00000389119.1:p.Trp1174Ser
ENST00000468795.1:c.436G>C
NM_000492.3:c.3611G>C , LRG_663t1:c.3611G>C	NP_000483.3:p.Trp1204Ser
XM_011515751.1:c.3701G>C	XP_011514053.1:p.Trp1234Ser
XM_011515752.1:c.3701G>C	XP_011514054.1:p.Trp1234Ser
XM_011515753.1:c.3368G>C	XP_011514055.1:p.Trp1123Ser
XM_011515754.1:c.3368G>C	XP_011514056.1:p.Trp1123Ser
NM_000492.4:c.3611G>C MANE Select	NP_000483.3:p.Trp1204Ser