Canonical Allele Identifier: CA4451149

Gene: CFTR

Linked Data

• ClinVar Variation Id: 820807
• ClinVar RCV Id: RCV001193706 ; RCV001785766 ; RCV001832337 ; RCV002497338 ; RCV003478621
• dbSNP Id: rs142432539
• ExAC: 7:117232374 C / G
• gnomAD v2: 7-117232374-C-G
• gnomAD v3: 7-117592320-C-G
• gnomAD v4: 7-117592320-C-G
• MyVariant Identifiers: chr7:g.117232374C>G (hg19) ; chr7:g.117592320C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592320C>G , CM000669.2:g.117592320C>G	GRCh38
NC_000007.13:g.117232374C>G , CM000669.1:g.117232374C>G	GRCh37
NC_000007.12:g.117019610C>G	NCBI36
NG_016465.4:g.131537C>G , LRG_663:g.131537C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2153C>G	ENSP00000497673.2:p.Pro718Arg
ENST00000647978.2:c.*1867C>G	ENSP00000497658.1:n.*1867C>G
ENST00000649781.2:c.1970C>G	ENSP00000497203.1:p.Pro657Arg
ENST00000685018.2:c.2153C>G	ENSP00000510194.2:p.Pro718Arg
ENST00000687278.2:c.2153C>G	ENSP00000509593.2:p.Pro718Arg
ENST00000699585.1:c.2153C>G	ENSP00000514456.1:p.Pro718Arg
ENST00000699598.1:c.2153C>G	ENSP00000514467.1:p.Pro718Arg
ENST00000699599.1:c.2153C>G	ENSP00000514468.1:p.Pro718Arg
ENST00000699600.1:c.2153C>G	ENSP00000514469.1:p.Pro718Arg
ENST00000699601.1:c.*453C>G	ENSP00000514470.1:n.*453C>G
ENST00000699602.1:c.2153C>G	ENSP00000514471.1:p.Pro718Arg
ENST00000699604.1:c.*1977C>G	ENSP00000514472.1:n.*1977C>G
ENST00000699605.1:c.1727C>G	ENSP00000514473.1:p.Pro576Arg
ENST00000003084.11:c.2153C>G MANE Select	ENSP00000003084.6:p.Pro718Arg
ENST00000647978.1:c.*1867C>G	ENSP00000497658.1:n.*1867C>G
ENST00000648260.1:c.1402-10506C>G	ENSP00000497957.1:n.1402-10506C>G
ENST00000649406.1:c.1970C>G	ENSP00000497965.1:p.Pro657Arg
ENST00000649781.1:c.1970C>G	ENSP00000497203.1:p.Pro657Arg
ENST00000003084.10:c.2153C>G	ENSP00000003084.6:p.Pro718Arg
ENST00000426809.5:c.2063C>G	ENSP00000389119.1:p.Pro688Arg
NM_000492.3:c.2153C>G , LRG_663t1:c.2153C>G	NP_000483.3:p.Pro718Arg
XM_011515751.1:c.2243C>G	XP_011514053.1:p.Pro748Arg
XM_011515752.1:c.2243C>G	XP_011514054.1:p.Pro748Arg
XM_011515753.1:c.1910C>G	XP_011514055.1:p.Pro637Arg
XM_011515754.1:c.1910C>G	XP_011514056.1:p.Pro637Arg
NM_000492.4:c.2153C>G MANE Select	NP_000483.3:p.Pro718Arg