Canonical Allele Identifier: CA326933

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53572
• ClinVar RCV Id: RCV000668898
• dbSNP Id: rs397508439
• ExAC: 7:117243743 C / G
• gnomAD v2: 7-117243743-C-G
• gnomAD v3: 7-117603689-C-G
• gnomAD v4: 7-117603689-C-G
• MyVariant Identifiers: chr7:g.117243743C>G (hg19) ; chr7:g.117603689C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603689C>G , CM000669.2:g.117603689C>G	GRCh38
NC_000007.13:g.117243743C>G , CM000669.1:g.117243743C>G	GRCh37
NC_000007.12:g.117030979C>G	NCBI36
NG_016465.4:g.142906C>G , LRG_663:g.142906C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2815C>G	ENSP00000497673.2:p.His939Asp
ENST00000647978.2:c.*2529C>G	ENSP00000497658.1:n.*2529C>G
ENST00000649781.2:c.2632C>G	ENSP00000497203.1:p.His878Asp
ENST00000685018.2:c.2815C>G	ENSP00000510194.2:p.His939Asp
ENST00000687278.2:c.2815C>G	ENSP00000509593.2:p.His939Asp
ENST00000699585.1:c.2815C>G	ENSP00000514456.1:p.His939Asp
ENST00000699598.1:c.2815C>G	ENSP00000514467.1:p.His939Asp
ENST00000699599.1:c.2815C>G	ENSP00000514468.1:p.His939Asp
ENST00000699600.1:c.2815C>G	ENSP00000514469.1:p.His939Asp
ENST00000699601.1:c.*1115C>G	ENSP00000514470.1:n.*1115C>G
ENST00000699602.1:c.2815C>G	ENSP00000514471.1:p.His939Asp
ENST00000699604.1:c.*2639C>G	ENSP00000514472.1:n.*2639C>G
ENST00000699605.1:c.2389C>G	ENSP00000514473.1:p.His797Asp
ENST00000687278.1:c.406C>G	ENSP00000509593.1:p.His136Asp
ENST00000003084.11:c.2815C>G MANE Select	ENSP00000003084.6:p.His939Asp
ENST00000647720.1:c.465C>G
ENST00000648260.1:c.1597C>G	ENSP00000497957.1:p.His533Asp
ENST00000649406.1:c.2632C>G	ENSP00000497965.1:p.His878Asp
ENST00000649781.1:c.2632C>G	ENSP00000497203.1:p.His878Asp
ENST00000003084.10:c.2815C>G	ENSP00000003084.6:p.His939Asp
ENST00000426809.5:c.2725C>G	ENSP00000389119.1:p.His909Asp
NM_000492.3:c.2815C>G , LRG_663t1:c.2815C>G	NP_000483.3:p.His939Asp
XM_011515751.1:c.2905C>G	XP_011514053.1:p.His969Asp
XM_011515752.1:c.2905C>G	XP_011514054.1:p.His969Asp
XM_011515753.1:c.2572C>G	XP_011514055.1:p.His858Asp
XM_011515754.1:c.2572C>G	XP_011514056.1:p.His858Asp
NM_000492.4:c.2815C>G MANE Select	NP_000483.3:p.His939Asp