Canonical Allele Identifier: CA368980738

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1788713
• ClinVar RCV Id: RCV002443822
• gnomAD v4: 7-117592434-G-T
• MyVariant Identifiers: chr7:g.117232488G>T (hg19) ; chr7:g.117592434G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592434G>T , CM000669.2:g.117592434G>T	GRCh38
NC_000007.13:g.117232488G>T , CM000669.1:g.117232488G>T	GRCh37
NC_000007.12:g.117019724G>T	NCBI36
NG_016465.4:g.131651G>T , LRG_663:g.131651G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2267G>T	ENSP00000497673.2:p.Ser756Ile
ENST00000647978.2:c.*1981G>T	ENSP00000497658.1:n.*1981G>T
ENST00000649781.2:c.2084G>T	ENSP00000497203.1:p.Ser695Ile
ENST00000685018.2:c.2267G>T	ENSP00000510194.2:p.Ser756Ile
ENST00000687278.2:c.2267G>T	ENSP00000509593.2:p.Ser756Ile
ENST00000699585.1:c.2267G>T	ENSP00000514456.1:p.Ser756Ile
ENST00000699598.1:c.2267G>T	ENSP00000514467.1:p.Ser756Ile
ENST00000699599.1:c.2267G>T	ENSP00000514468.1:p.Ser756Ile
ENST00000699600.1:c.2267G>T	ENSP00000514469.1:p.Ser756Ile
ENST00000699601.1:c.*567G>T	ENSP00000514470.1:n.*567G>T
ENST00000699602.1:c.2267G>T	ENSP00000514471.1:p.Ser756Ile
ENST00000699604.1:c.*2091G>T	ENSP00000514472.1:n.*2091G>T
ENST00000699605.1:c.1841G>T	ENSP00000514473.1:p.Ser614Ile
ENST00000003084.11:c.2267G>T MANE Select	ENSP00000003084.6:p.Ser756Ile
ENST00000647978.1:c.*1981G>T	ENSP00000497658.1:n.*1981G>T
ENST00000648260.1:c.1402-10392G>T	ENSP00000497957.1:n.1402-10392G>T
ENST00000649406.1:c.2084G>T	ENSP00000497965.1:p.Ser695Ile
ENST00000649781.1:c.2084G>T	ENSP00000497203.1:p.Ser695Ile
ENST00000003084.10:c.2267G>T	ENSP00000003084.6:p.Ser756Ile
ENST00000426809.5:c.2177G>T	ENSP00000389119.1:p.Ser726Ile
NM_000492.3:c.2267G>T , LRG_663t1:c.2267G>T	NP_000483.3:p.Ser756Ile
XM_011515751.1:c.2357G>T	XP_011514053.1:p.Ser786Ile
XM_011515752.1:c.2357G>T	XP_011514054.1:p.Ser786Ile
XM_011515753.1:c.2024G>T	XP_011514055.1:p.Ser675Ile
XM_011515754.1:c.2024G>T	XP_011514056.1:p.Ser675Ile
NM_000492.4:c.2267G>T MANE Select	NP_000483.3:p.Ser756Ile