Canonical Allele Identifier: CA221026

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7109
• ClinVar RCV Id: RCV000007529 ; RCV000007528 ; RCV000078997 ; RCV000417156 ; RCV000763151 ; RCV000826137 ; RCV001009478 ; RCV001642199 ; RCV004018585 ; RCV003473001
• dbSNP Id: rs78655421
• ExAC: 7:117171029 G / A
• gnomAD v2: 7-117171029-G-A
• gnomAD v3: 7-117530975-G-A
• gnomAD v4: 7-117530975-G-A
• MyVariant Identifiers: chr7:g.117171029G>A (hg19) ; chr7:g.117530975G>A (hg38)
• PubMed: PMID:1283148 ; PMID:1937486 ; PMID:2349952 ; PMID:3110945 ; PMID:7506096 ; PMID:7522329 ; PMID:7544788 ; PMID:7573058 ; PMID:7599637 ; PMID:7680769 ; PMID:7692051 ; PMID:8421472 ; PMID:8698344 ; PMID:8825927 ; PMID:9259194 ; PMID:9259197 ; PMID:9272157 ; PMID:9550361 ; PMID:9557894 ; PMID:9950763 ; PMID:10103316 ; PMID:10341008 ; PMID:10653141 ; PMID:10909845 ; PMID:11168024 ; PMID:11280952 ; PMID:11737931 ; PMID:11746017 ; PMID:12767731 ; PMID:15246977 ; PMID:17015492 ; PMID:18456578 ; PMID:19092437 ; PMID:19774621 ; PMID:19880712 ; PMID:22992668 ; PMID:23974870 ; PMID:25698453 ; PMID:26070913 ; PMID:26324139

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117530975G>A , CM000669.2:g.117530975G>A	GRCh38
NC_000007.13:g.117171029G>A , CM000669.1:g.117171029G>A	GRCh37
NC_000007.12:g.116958265G>A	NCBI36
NG_016465.4:g.70192G>A , LRG_663:g.70192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.350G>A	ENSP00000497673.2:p.Arg117His
ENST00000647978.2:c.*247G>A	ENSP00000497658.1:n.*247G>A
ENST00000649781.2:c.350G>A	ENSP00000497203.1:p.Arg117His
ENST00000685018.2:c.350G>A	ENSP00000510194.2:p.Arg117His
ENST00000687278.2:c.350G>A	ENSP00000509593.2:p.Arg117His
ENST00000699585.1:c.350G>A	ENSP00000514456.1:p.Arg117His
ENST00000699596.1:c.350G>A	ENSP00000514465.1:p.Arg117His
ENST00000699597.1:c.350G>A	ENSP00000514466.1:p.Arg117His
ENST00000699598.1:c.350G>A	ENSP00000514467.1:p.Arg117His
ENST00000699599.1:c.350G>A	ENSP00000514468.1:p.Arg117His
ENST00000699600.1:c.350G>A	ENSP00000514469.1:p.Arg117His
ENST00000699601.1:c.350G>A	ENSP00000514470.1:p.Arg117His
ENST00000699602.1:c.350G>A	ENSP00000514471.1:p.Arg117His
ENST00000699604.1:c.*174G>A	ENSP00000514472.1:n.*174G>A
ENST00000699605.1:c.107G>A	ENSP00000514473.1:p.Arg36His
ENST00000446805.2:c.107G>A	ENSP00000417012.1:p.Arg36His
ENST00000003084.11:c.350G>A MANE Select	ENSP00000003084.6:p.Arg117His
ENST00000647978.1:c.*247G>A	ENSP00000497658.1:n.*247G>A
ENST00000648260.1:c.350G>A	ENSP00000497957.1:p.Arg117His
ENST00000649406.1:c.350G>A	ENSP00000497965.1:p.Arg117His
ENST00000649781.1:c.350G>A	ENSP00000497203.1:p.Arg117His
ENST00000673785.1:c.107G>A	ENSP00000501235.1:p.Arg36His
ENST00000003084.10:c.350G>A	ENSP00000003084.6:p.Arg117His
ENST00000426809.5:c.350G>A	ENSP00000389119.1:p.Arg117His
ENST00000446805.1:c.107G>A	ENSP00000417012.1:p.Arg36His
NM_000492.3:c.350G>A , LRG_663t1:c.350G>A	NP_000483.3:p.Arg117His
XM_011515751.1:c.440G>A	XP_011514053.1:p.Arg147His
XM_011515752.1:c.440G>A	XP_011514054.1:p.Arg147His
XM_011515753.1:c.107G>A	XP_011514055.1:p.Arg36His
XM_011515754.1:c.107G>A	XP_011514056.1:p.Arg36His
NM_000492.4:c.350G>A MANE Select	NP_000483.3:p.Arg117His