Canonical Allele Identifier: CA4451107

Gene: CFTR

Linked Data

• dbSNP Id: rs397508314
• ExAC: 7:117232080 A / T
• gnomAD v2: 7-117232080-A-T
• gnomAD v3: 7-117592026-A-T
• gnomAD v4: 7-117592026-A-T
• MyVariant Identifiers: chr7:g.117232080A>T (hg19) ; chr7:g.117592026A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592026A>T , CM000669.2:g.117592026A>T	GRCh38
NC_000007.13:g.117232080A>T , CM000669.1:g.117232080A>T	GRCh37
NC_000007.12:g.117019316A>T	NCBI36
NG_016465.4:g.131243A>T , LRG_663:g.131243A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1859A>T	ENSP00000497673.2:p.His620Leu
ENST00000647978.2:c.*1573A>T	ENSP00000497658.1:n.*1573A>T
ENST00000649781.2:c.1676A>T	ENSP00000497203.1:p.His559Leu
ENST00000685018.2:c.1859A>T	ENSP00000510194.2:p.His620Leu
ENST00000687278.2:c.1859A>T	ENSP00000509593.2:p.His620Leu
ENST00000699585.1:c.1859A>T	ENSP00000514456.1:p.His620Leu
ENST00000699598.1:c.1859A>T	ENSP00000514467.1:p.His620Leu
ENST00000699599.1:c.1859A>T	ENSP00000514468.1:p.His620Leu
ENST00000699600.1:c.1859A>T	ENSP00000514469.1:p.His620Leu
ENST00000699601.1:c.*159A>T	ENSP00000514470.1:n.*159A>T
ENST00000699602.1:c.1859A>T	ENSP00000514471.1:p.His620Leu
ENST00000699604.1:c.*1683A>T	ENSP00000514472.1:n.*1683A>T
ENST00000699605.1:c.1433A>T	ENSP00000514473.1:p.His478Leu
ENST00000003084.11:c.1859A>T MANE Select	ENSP00000003084.6:p.His620Leu
ENST00000647978.1:c.*1573A>T	ENSP00000497658.1:n.*1573A>T
ENST00000648260.1:c.1402-10800A>T	ENSP00000497957.1:n.1402-10800A>T
ENST00000649406.1:c.1676A>T	ENSP00000497965.1:p.His559Leu
ENST00000649781.1:c.1676A>T	ENSP00000497203.1:p.His559Leu
ENST00000003084.10:c.1859A>T	ENSP00000003084.6:p.His620Leu
ENST00000426809.5:c.1769A>T	ENSP00000389119.1:p.His590Leu
NM_000492.3:c.1859A>T , LRG_663t1:c.1859A>T	NP_000483.3:p.His620Leu
XM_011515751.1:c.1949A>T	XP_011514053.1:p.His650Leu
XM_011515752.1:c.1949A>T	XP_011514054.1:p.His650Leu
XM_011515753.1:c.1616A>T	XP_011514055.1:p.His539Leu
XM_011515754.1:c.1616A>T	XP_011514056.1:p.His539Leu
NM_000492.4:c.1859A>T MANE Select	NP_000483.3:p.His620Leu