Canonical Allele Identifier: CA327169

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53733
• ClinVar RCV Id: RCV000577660 ; RCV000590826 ; RCV001327955 ; RCV002223781 ; RCV003474578
• dbSNP Id: rs397508553
• ExAC: 7:117254708 A / G
• gnomAD v2: 7-117254708-A-G
• gnomAD v3: 7-117614654-A-G
• gnomAD v4: 7-117614654-A-G
• MyVariant Identifiers: chr7:g.117254708A>G (hg19) ; chr7:g.117614654A>G (hg38)
• PubMed: PMID:7543317 ; PMID:8644755 ; PMID:9804160 ; PMID:9921909 ; PMID:11303517 ; PMID:12454843 ; PMID:19587087 ; PMID:20932301 ; PMID:22678879 ; PMID:25910067

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614654A>G , CM000669.2:g.117614654A>G	GRCh38
NC_000007.13:g.117254708A>G , CM000669.1:g.117254708A>G	GRCh37
NC_000007.12:g.117041944A>G	NCBI36
NG_016465.4:g.153871A>G , LRG_663:g.153871A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3409A>G	ENSP00000497673.2:p.Met1137Val
ENST00000647978.2:c.*3123A>G	ENSP00000497658.1:n.*3123A>G
ENST00000649781.2:c.3226A>G	ENSP00000497203.1:p.Met1076Val
ENST00000685018.2:c.3409A>G	ENSP00000510194.2:p.Met1137Val
ENST00000687278.2:c.3409A>G	ENSP00000509593.2:p.Met1137Val
ENST00000699585.1:c.3409A>G	ENSP00000514456.1:p.Met1137Val
ENST00000699598.1:c.3409A>G	ENSP00000514467.1:p.Met1137Val
ENST00000699599.1:c.3409A>G	ENSP00000514468.1:p.Met1137Val
ENST00000699600.1:c.3409A>G	ENSP00000514469.1:p.Met1137Val
ENST00000699601.1:c.*1784A>G	ENSP00000514470.1:n.*1784A>G
ENST00000699602.1:c.3403A>G	ENSP00000514471.1:p.Met1135Val
ENST00000699604.1:c.*3233A>G	ENSP00000514472.1:n.*3233A>G
ENST00000699605.1:c.2983A>G	ENSP00000514473.1:p.Met995Val
ENST00000685018.1:c.157A>G	ENSP00000510194.1:p.Met53Val
ENST00000687278.1:c.1000A>G	ENSP00000509593.1:p.Met334Val
ENST00000003084.11:c.3409A>G MANE Select	ENSP00000003084.6:p.Met1137Val
ENST00000647720.1:c.1059A>G
ENST00000648260.1:c.2191A>G	ENSP00000497957.1:p.Met731Val
ENST00000649406.1:c.3226A>G	ENSP00000497965.1:p.Met1076Val
ENST00000649781.1:c.3226A>G	ENSP00000497203.1:p.Met1076Val
ENST00000003084.10:c.3409A>G	ENSP00000003084.6:p.Met1137Val
ENST00000426809.5:c.3319A>G	ENSP00000389119.1:p.Met1107Val
ENST00000468795.1:c.234A>G
NM_000492.3:c.3409A>G , LRG_663t1:c.3409A>G	NP_000483.3:p.Met1137Val
XM_011515751.1:c.3499A>G	XP_011514053.1:p.Met1167Val
XM_011515752.1:c.3499A>G	XP_011514054.1:p.Met1167Val
XM_011515753.1:c.3166A>G	XP_011514055.1:p.Met1056Val
XM_011515754.1:c.3166A>G	XP_011514056.1:p.Met1056Val
NM_000492.4:c.3409A>G MANE Select	NP_000483.3:p.Met1137Val