Canonical Allele Identifier: CA368975215

Gene: CFTR

Linked Data

• gnomAD v4: 7-117642541-G-C
• MyVariant Identifiers: chr7:g.117282595G>C (hg19) ; chr7:g.117642541G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642541G>C , CM000669.2:g.117642541G>C	GRCh38
NC_000007.13:g.117282595G>C , CM000669.1:g.117282595G>C	GRCh37
NC_000007.12:g.117069831G>C	NCBI36
NG_016465.4:g.181758G>C , LRG_663:g.181758G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*30G>C	ENSP00000497673.2:n.*30G>C
ENST00000647978.2:c.*3535G>C	ENSP00000497658.1:n.*3535G>C
ENST00000649781.2:c.3638G>C	ENSP00000497203.1:p.Trp1213Ser
ENST00000685018.2:c.3821G>C	ENSP00000510194.2:p.Trp1274Ser
ENST00000687278.2:c.*474G>C	ENSP00000509593.2:n.*474G>C
ENST00000699585.1:c.*30G>C	ENSP00000514456.1:n.*30G>C
ENST00000699598.1:c.3821G>C	ENSP00000514467.1:p.Trp1274Ser
ENST00000699599.1:c.3821G>C	ENSP00000514468.1:p.Trp1274Ser
ENST00000699600.1:c.*482G>C	ENSP00000514469.1:n.*482G>C
ENST00000699601.1:c.*2196G>C	ENSP00000514470.1:n.*2196G>C
ENST00000699602.1:c.3815G>C	ENSP00000514471.1:p.Trp1272Ser
ENST00000699604.1:c.*3645G>C	ENSP00000514472.1:n.*3645G>C
ENST00000699605.1:c.3395G>C	ENSP00000514473.1:p.Trp1132Ser
ENST00000685018.1:c.569G>C	ENSP00000510194.1:p.Trp190Ser
ENST00000687278.1:c.1608G>C	ENSP00000509593.1:n.1608G>C
ENST00000689011.1:c.403G>C
ENST00000003084.11:c.3821G>C MANE Select	ENSP00000003084.6:p.Trp1274Ser
ENST00000647720.1:c.1271G>C
ENST00000649781.1:c.3638G>C	ENSP00000497203.1:p.Trp1213Ser
ENST00000003084.10:c.3821G>C	ENSP00000003084.6:p.Trp1274Ser
ENST00000426809.5:c.3731G>C	ENSP00000389119.1:p.Trp1244Ser
NM_000492.3:c.3821G>C , LRG_663t1:c.3821G>C	NP_000483.3:p.Trp1274Ser
XM_011515751.1:c.3911G>C	XP_011514053.1:p.Trp1304Ser
XM_011515752.1:c.3911G>C	XP_011514054.1:p.Trp1304Ser
XM_011515753.1:c.3578G>C	XP_011514055.1:p.Trp1193Ser
XM_011515754.1:c.3578G>C	XP_011514056.1:p.Trp1193Ser
NM_000492.4:c.3821G>C MANE Select	NP_000483.3:p.Trp1274Ser